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Frequenciesa of DPYD alleles in biogeographical groupsb

African
American/Afro- Central/South
DPYD allelec Caribbean American Asian East Asian
c.1905+1G>A (*2A) 0.0031 0.0051 0.0000
c.1898delC (*3)
c.1601G>A (*4) 0.0097 0.0086 0.0000
c.1627A>G (*5) 0.1401 0.0937 0.2547
c.2194G>A (*6) 0.0160 0.0951 0.0182
c.295_298delTCAT (*7) 0.0000 0.0000
c.703C>T (*8) 0.0002 0.0000
c.85T>C (*9A) 0.4271 0.2553 0.0763
c.2657G>A (*9B) 0.0000 0.0002 0.0003
c.2983G>T (*10)
c.1003G>T (*11) 0.0000 0.0001
c.1156G>T (*12)
c.1679T>G (*13) 0.0000 0.0000 0.0000
c.1129-5923C>G,
0.0031 0.0197 0.0000
c.1236G>A (HapB3)
c.2846A>T 0.0031 0.0006 0.0000
c.557A>G 0.0123 0.0000 0.0000
c.62G>A 0.0000 0.0000
c.496A>G 0.0319 0.0852 0.0156
c.1218G>A 0.0637 0.0002 0.0000
c.1896T>C 0.0319 0.0359 0.1237
c.46C>G 0.0000 0.0000
c.313G>A 0.0000 0.0000
c.343A>G 0.0000 0.0000
c.451A>G 0.0000 0.0000 0.0004
c.498G>A
c.601A>C 0.0000 0.0000
c.632A>G 0.0000 0.0000
c.775A>G 0.0031 0.0069 0.0000
c.868A>G 0.0000 0.0000 0.0000
c.929T>C 0.0000 0.0000
c.934C>T 0.0000 0.0000
c.967G>A 0.0000 0.0002 0.0000
c.1024G>A 0.0031 0.0000 0.0000
c.1057C>T
c.1108A>G 0.0000 0.0003 0.0000
c.1181G>T 0.0000 0.0000 0.0000
c.1180C>T 0.0000 0.0000
c.1260T>A 0.0000 0.0000 0.0000
c.1278G>T 0.0000 0.0000
c.1294G>A 0.0000 0.0000
c.1314T>G 0.0000 0.0000 0.0007
c.1349C>T 0.0000 0.0000 0.0000
c.1358C>G 0.0031 0.0000 0.0000
c.1403C>A 0.0000 0.0000 0.0000
c.1475C>T 0.0002 0.0000
c.1484A>G
c.1519G>A 0.0000 0.0000
c.1543G>A 0.0000 0.0000
c.1577C>G 0.0000 0.0000 0.0000
c.1615G>A 0.0031 0.0000 0.0000
c.1682G>T 0.0001 0.0000
c.1775G>A 0.0000 0.0000
c.1774C>T 0.0000 0.0000 0.0016
c.1777G>A 0.0000 0.0000
c.1796T>C 0.0000 0.0000
c.1905C>G 0.0000 0.0000 0.0000
c.1906A>C 0.0000 0.0000
c.1990G>T 0.0000 0.0000
c.2021G>A 0.0000 0.0000
c.2161G>A 0.0000 0.0001 0.0000
c.2186C>T 0.0000 0.0000
c.2195T>G 0.0000 0.0000 0.0000
c.2279C>T 0.0000 0.0060 0.0000
c.2303C>A 0.0000 0.0000 0.0018
c.2336C>A 0.0000 0.0000 0.0010
c.2482G>A 0.0000 0.0001 0.0000
c.2582A>G 0.0000 0.0003 0.0000
c.2623A>C 0.0000 0.0000 0.0003
c.2639G>T 0.0007 0.0000
c.2656C>T 0.0010 0.0001
c.2872A>G 0.0000 0.0000
c.2915A>G 0.0092 0.0000 0.0000
c.2921A>T
c.2933A>G
c.2978T>G 0.0000 0.0000 0.0000
c.2977C>T 0.0000 0.0000 0.0000
c.3049G>A 0.0000 0.0000
c.3061G>C 0.0001 0.0000
c.3067C>A 0.0446 0.0000 0.0000
c.525G>A 0.0000 0.0000 0.0001
c.1371C>T 0.0158 0.0001 0.0000

For full references see "References" tab.


a
Average frequencies based on the reported frequencies in one or multiple studies.
b
Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups
c
See allele definition table (https://www.pharmgkb.org/page/dpydRefMaterials) for allele definitions
Sub-Saharan
European Latino Near Eastern Oceanian African
0.0079 0.0008 0.0000

0.0198 0.0094 0.0000


0.1949 0.3071 0.1579
0.0450 0.0273 0.0270
0.0002 0.0001
0.0001 0.0000
0.2275 0.2089 0.4464
0.0000 0.0000 0.0000

0.0000 0.0000

0.0006 0.0000 0.0000


0.0237 0.0059
0.0000
0.0037 0.0021 0.0000
0.0001 0.0012 0.0259
0.0000 0.0000
0.1104 0.0363 0.0308
0.0003 0.0023 0.0825
0.0379 0.0811 0.0080
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0112 0.0000

0.0000 0.0000
0.0000 0.0000
0.0153 0.0073 0.0000
0.0000 0.0003 0.0020
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0000 0.0000


0.0000 0.0000 0.0009
0.0000 0.0001
0.0006 0.0000 0.0000
0.0000 0.0000
0.0000 0.0001
0.0000 0.0000 0.0000
0.0000 0.0001 0.0039
0.0000 0.0000 0.0020
0.0000 0.0000 0.0000
0.0000 0.0000

0.0000 0.0000
0.0001 0.0000
0.0000 0.0003 0.0000
0.0000 0.0000 0.0041
0.0000 0.0001
0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000
0.0001 0.0000
0.0001 0.0000 0.0000
0.0000 0.0002
0.0000 0.0000
0.0000 0.0000
0.0002 0.0002 0.0010
0.0000 0.0000
0.0000 0.0000 0.0019
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0001 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000
0.0004 0.0001
0.0000 0.0000
0.0000 0.0001 0.0000

0.0000 0.0000 0.0019


0.0000 0.0005 0.0000
0.0000 0.0000
0.0001 0.0000
0.0000 0.0009 0.0348
0.0000 0.0001 0.0020
0.0002 0.0007 0.0207

/biogeographicalGroups
allele definitions
Authors Year PMID Population group

1000 Genomes Project phase 3 2015 26432245 African American/Afro-Caribbean


1000 Genomes Project phase 3 2015 26432245 African American/Afro-Caribbean

Average
Min
Max

Average
Min
Max

Lek et al. 2016 27535533 Central/South Asian


Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
Lek et al. 2016 27535533 Central/South Asian
1000 Genomes Project phase 3 2015 26432245 Central/South Asian
1000 Genomes Project phase 3 2015 26432245 Central/South Asian
1000 Genomes Project phase 3 2015 26432245 Central/South Asian
1000 Genomes Project phase 3 2015 26432245 Central/South Asian
1000 Genomes Project phase 3 2015 26432245 Central/South Asian

Average
Min
Max

Lek et al. 2016 27535533 East Asian


Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
Lek et al. 2016 27535533 East Asian
1000 Genomes Project phase 3 2015 26432245 East Asian
1000 Genomes Project phase 3 2015 26432245 East Asian
1000 Genomes Project phase 3 2015 26432245 East Asian
1000 Genomes Project phase 3 2015 26432245 East Asian
1000 Genomes Project phase 3 2015 26432245 East Asian

Average
Min
Max

Lek et al. 2016 27535533 European


Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
Lek et al. 2016 27535533 European
1000 Genomes Project phase 3 2015 26432245 European
1000 Genomes Project phase 3 2015 26432245 European
1000 Genomes Project phase 3 2015 26432245 European
1000 Genomes Project phase 3 2015 26432245 European
1000 Genomes Project phase 3 2015 26432245 European

Average
Min
Max

Lek et al. 2016 27535533 Latino


Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
Lek et al. 2016 27535533 Latino
1000 Genomes Project phase 3 2015 26432245 Latino
1000 Genomes Project phase 3 2015 26432245 Latino
1000 Genomes Project phase 3 2015 26432245 Latino
1000 Genomes Project phase 3 2015 26432245 Latino

Average
Min
Max
Average
Min
Max

Average
Min
Max

1000 Genomes Project phase 3 2015 26432245 Sub-Saharan African


1000 Genomes Project phase 3 2015 26432245 Sub-Saharan African
1000 Genomes Project phase 3 2015 26432245 Sub-Saharan African
1000 Genomes Project phase 3 2015 26432245 Sub-Saharan African
1000 Genomes Project phase 3 2015 26432245 Sub-Saharan African

Average
Min
Max

Both variants are listed with identical frequencies in 1000 Genomes


a
Population details Add'l population info

African Caribbean (ACB)


African Ancestry in Southwest US (ASW)

South Asian Retrieved from ExAC genome browser


South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
South Asian Retrieved from ExAC genome browser
Bengali (BEB)
Gujarati Indian in Houston, Texas (GIH)
Indian Telugu in the United Kingdom (ITU)
Punjabi in Lahore (PJL)
Sri Lankan Tamil in the United Kingdom (STU)

East Asian Retrieved from ExAC genome browser


East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
East Asian Retrieved from ExAC genome browser
Chinese Dai in Xishuangbanna (CDX)
Han Chinese in Beijing (CHB)
Southern Han Chinese (CHS)
Japanese in Tokyo (JPT)
Kinh in Ho Chi Minh City (KHV)

Finnish Retrieved from ExAC genome browser


Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
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Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
Non-Finnish Retrieved from ExAC genome browser
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Non-Finnish Retrieved from ExAC genome browser
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Non-Finnish Retrieved from ExAC genome browser
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Non-Finnish Retrieved from ExAC genome browser
Utah Residents with Northern and Western European Ancestry (CEU)
Finnish (FIN)
Toscani (TSI)
Iberian populations (IBS)
British in England and Scotland (GBR)

Latino Retrieved from ExAC genome browser


Latino Retrieved from ExAC genome browser
Latino Retrieved from ExAC genome browser
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Columbian in Medellin (CLM)
Los Angeles (MXL)
Peruvian in Lima (PEL)
Puerto Rican (PUR)
Gambian in Western Division (GWD)
Luhya in Webuye (LWK)
Esan (ESN)
Yoruba in Ibadan (YRI)
Mende (MSL)
N Subjects
Subject type genotyped c.1905+1G>A (*2A)

192 0.0000
122 0.0080

0.0031
0.0000
0.0080

8255 0.0047
8242
8254
8234
8253
8233
8251
8238
8249
7773
7455
7374
8239
8232
5348
8250
8256
8246
8245
8052
8138
8161
8230
8241
7120
8229
8240
8211
8007
8252
8192
8221
8235
4019
8210
8190
7547
7490
8243
172 0.0000
206 0.0150
204 0.0000
192 0.0100
204 0.0150

0.0051
0.0000
0.0150

4324 0.0000
4303
4304
4313
4322
4320
4321
4306
4292
4326
4323
4319
4283
4327
4263
4316
3903
3546
3472
4243
2317
4317
4318
4311
4312
4307
4042
4146
4290
4305
4296
4247
4293
3675
4278
4289
4291
4302
4298
4150
4288
4200
4257
4281
242
4239
3723
3537
4314
4295
186 0.0000
206 0.0000
210 0.0000
208 0.0000
198 0.0000

0.0000
0.0000
0.0000

3304 0.0221
3280
3297
3278
3307
3305
3299
3279
3303
3272
3284
3306
3143
2778
2719
3281
3293
3300
1378
3302
3296
3295
3219
3253
3250
3277
3294
3301
2687
3287
3290
3235
3262
3268
3274
180
3051
3086
33344 0.0066
33211
33296
33193
33363
33351
33285
33210
33343
33342
33350
33356
33148
33348
33228
33329
33333
33352
30849
26999
26393
33149
33331
33174
33317
13720
33335
33359
33323
33306
33297
33355
33362
33361
31621
32417
33291
33340
33316
32876
33186
33214
33177
33303
33299
33309
33347
27268
33220
33240
33345
33275
33304
32595
33341
32693
33000
33136
33366
33358
33367
3810
32975
33169
29181
29111
33354
33270
33233
33364
198 0.0050
198 0.0150
214 0.0050
214 0.0000
182 0.0000

0.0079
0.0000
0.0221

5743 0.0007
5689
5751
5675
5788
5766
5687
5674
5726
5778
5784
5789
5704
5785
5730
5782
5760
5748
5300
4929
4847
5722
5770
5658
5781
5776
2937
5783
5786
5746
5773
5780
5779
5552
5642
5750
5619
5672
5676
5670
5717
5714
5715
5729
5079
5762
5765
5716
5591
5771
5633
5701
5761
5772
5775
5777
236
5703
5072
5763
5148
5709
5723
188 0.0000
128 0.0000
170 0.0060
208 0.0000

0.0008
0.0000
0.0060
226 0.0000
198 0.0000
198 0.0000
216 0.0000
170 0.0000

0.0000
0.0000
0.0000
c.1898delC (*3) c.1601G>A (*4) c.1627A>G (*5) c.2194G>A (*6) c.295_298delTCAT (*7)

0.0000 0.1350 0.0160


0.0250 0.1480 0.0160

0.0097 0.1401 0.0160


0.0000 0.1350 0.0160
0.0250 0.1480 0.0160

0.0090 0.0950
0.0960

0.0000
0.0000 0.0990 0.0580
0.0150 0.1020 0.0730
0.0050 0.0540 0.0740
0.0050 0.0940 0.1040
0.0000 0.0690 0.1230

0.0086 0.0937 0.0951 0.0000


0.0000 0.0540 0.0580 0.0000
0.0150 0.1020 0.1230 0.0000

0.2520

0.0000
0.0190
0.0000
0.0000 0.2800 0.0220
0.0000 0.2670 0.0000
0.0000 0.2380 0.0240
0.0000 0.2600 0.0100
0.0000 0.2880 0.0200

0.0000 0.2547 0.0182 0.0000


0.0000 0.2380 0.0000 0.0000
0.0000 0.2880 0.0240 0.0000

0.1660

0.0000

0.0140
0.0230
0.1980

0.0200
0.0470
0.0002
0.0250 0.1570 0.0610
0.0150 0.1410 0.0350
0.0280 0.2480 0.0650
0.0560 0.2150 0.0470
0.0270 0.1700 0.0380

0.0198 0.1949 0.0450 0.0002


0.0140 0.1410 0.0230 0.0000
0.0560 0.2480 0.0650 0.0002

0.3120

0.0090
0.0240
0.0001
0.0270 0.1860 0.0740
0.0230 0.2270 0.0470
0.0060 0.4710 0.0180
0.0000 0.1970 0.0720

0.0094 0.3071 0.0273 0.0001


0.0000 0.1860 0.0180 0.0001
0.0270 0.4710 0.0740 0.0001
0.0000 0.0800 0.0400
0.0000 0.3030 0.0610
0.0000 0.1870 0.0050
0.0000 0.1480 0.0140
0.0000 0.0710 0.0120

0.0000 0.1579 0.0270


0.0000 0.0710 0.0050
0.0000 0.3030 0.0610
c.703C>T (*8) c.85T>C (*9A) c.2657G>A (*9B) c.2983G>T (*10) c.1003G>T (*11)

0.3910 0.0000
0.4840 0.0000

0.4271 0.0000
0.3910 0.0000
0.4840 0.0000

0.0000

0.2540

0.0002
0.0001
0.1920 0.0000
0.3250 0.0000
0.3090 0.0050
0.2970 0.0000
0.1960 0.0000

0.0002 0.2553 0.0002 0.0000


0.0002 0.1920 0.0000 0.0000
0.0002 0.3250 0.0050 0.0000

0.0740

0.0000
0.0001
0.0004
0.1450 0.0000
0.0680 0.0000
0.0710 0.0000
0.0580 0.0000
0.0960 0.0000

0.0000 0.0763 0.0003 0.0001


0.0000 0.0580 0.0000 0.0001
0.0000 0.1450 0.0004 0.0001

0.2970

0.0000
0.0000

0.0000
0.2210

0.0001
0.0000
0.0000
0.1570 0.0000
0.2980 0.0000
0.2200 0.0000
0.2150 0.0000
0.1810 0.0000

0.0001 0.2275 0.0000 0.0000


0.0000 0.1570 0.0000 0.0000
0.0001 0.2980 0.0000 0.0000

0.2070

0.0000
0.0000
0.0000
0.2340 0.0000
0.2420 0.0000
0.1650 0.0000
0.2550 0.0000

0.0000 0.2089 0.0000 0.0000


0.0000 0.1650 0.0000 0.0000
0.0000 0.2550 0.0000 0.0000
0.4650 0.0000
0.5000 0.0000
0.4290 0.0000
0.4350 0.0000
0.3940 0.0000

0.4464 0.0000
0.3940 0.0000
0.5000 0.0000
c.1129-5923C>G,
c.1156G>T (*12) c.1679T>G (*13) c.1236G>A (HapB3)a c.2846A>T c.557A>G c.62G>A c.496A>G

0.0000 0.0000 0.0000 0.0100 0.0210


0.0000 0.0080 0.0080 0.0160 0.0490

0.0000 0.0031 0.0031 0.0123 0.0319


0.0000 0.0000 0.0000 0.0100 0.0210
0.0000 0.0080 0.0080 0.0160 0.0490

0.0000
0.0006

0.0000

0.0000 0.0880
0.0000 0.0000 0.0000 0.0000 0.0520
0.0000 0.0490 0.0000 0.0000 0.0340
0.0000 0.0200 0.0000 0.0000 0.0590
0.0000 0.0210 0.0050 0.0000 0.1090
0.0000 0.0050 0.0000 0.0000 0.0540

0.0000 0.0197 0.0006 0.0000 0.0000 0.0852


0.0000 0.0000 0.0000 0.0000 0.0000 0.0340
0.0000 0.0490 0.0050 0.0000 0.0000 0.1090

0.0000
0.0000

0.0150

0.0000
0.0000
0.0000 0.0000 0.0000 0.0000 0.0380
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0050
0.0000 0.0000 0.0000 0.0000 0.0100
0.0000 0.0000 0.0000 0.0000 0.0400

0.0000 0.0000 0.0000 0.0000 0.0000 0.0156


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0400

0.0000
0.0002 0.0000 0.1820
0.0000

0.0006
0.0040

0.0001
0.0000
0.1030
0.0000 0.0250 0.0200 0.0000 0.0910
0.0050 0.0250 0.0000 0.0000 0.1970
0.0000 0.0140 0.0090 0.0000 0.1070
0.0000 0.0190 0.0000 0.0000 0.1170
0.0000 0.0380 0.0050 0.0000 0.0820

0.0006 0.0237 0.0037 0.0001 0.0000 0.1104


0.0000 0.0140 0.0000 0.0000 0.0000 0.0820
0.0050 0.0380 0.0200 0.0001 0.0000 0.1970

0.0000
0.0020

0.0010
0.0000
0.0330
0.0000 0.0110 0.0050 0.0000 0.0640
0.0000 0.0080 0.0080 0.0000 0.0700
0.0000 0.0060 0.0000 0.0000 0.0290
0.0000 0.0000 0.0000 0.0100 0.0870

0.0000 0.0059 0.0021 0.0012 0.0000 0.0363


0.0000 0.0000 0.0000 0.0000 0.0000 0.0290
0.0000 0.0110 0.0080 0.0100 0.0000 0.0870
0.0000 0.0000 0.0000 0.0400 0.0270
0.0000 0.0000 0.0000 0.0150 0.1010
0.0000 0.0000 0.0000 0.0100 0.0050
0.0000 0.0000 0.0000 0.0420 0.0090
0.0000 0.0000 0.0000 0.0180 0.0120

0.0000 0.0000 0.0000 0.0259 0.0308


0.0000 0.0000 0.0000 0.0100 0.0050
0.0000 0.0000 0.0000 0.0420 0.1010
c.1218G>A c.1896T>C c.46C>G c.313G>A c.343A>G c.451A>G c.498G>A c.601A>C c.632A>G

0.0680 0.0210 0.0000


0.0570 0.0490 0.0000

0.0637 0.0319 0.0000


0.0570 0.0210 0.0000
0.0680 0.0490 0.0000

0.0360

0.0002 0.0000 0.0000

0.0000 0.0000

0.0000
0.0000
0.0000 0.0640 0.0000
0.0000 0.0150 0.0000
0.0000 0.0200 0.0000
0.0000 0.0360 0.0000
0.0000 0.0440 0.0000

0.0002 0.0359 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0150 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0002 0.0640 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.1260 0.0000
0.0000

0.0002 0.0000

0.0000

0.0000

0.0000
0.0000 0.0860 0.0000
0.0000 0.1210 0.0000
0.0000 0.1290 0.0000
0.0000 0.1200 0.0050
0.0000 0.1110 0.0000

0.0000 0.1237 0.0000 0.0000 0.0000 0.0004 0.0000 0.0000


0.0000 0.0860 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.1290 0.0000 0.0000 0.0000 0.0050 0.0000 0.0000

0.0000
0.0000

0.0002
0.0470 0.0000

0.0000
0.0000
0.0000

0.0000

0.0000

0.0003
0.0370

0.0000
0.0000
0.0000
0.0000
0.0000 0.0660 0.0000
0.0000 0.0510 0.0000
0.0000 0.0190 0.0000
0.0000 0.0190 0.0000
0.0000 0.0330 0.0000

0.0003 0.0379 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0190 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0003 0.0660 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0120

0.0020
0.0810

0.0000
0.0000
0.0000
0.0000
0.0000
0.0000 0.0850 0.0000
0.0160 0.0780 0.0000
0.0000 0.1120 0.0180
0.0050 0.0580 0.0000

0.0023 0.0811 0.0000 0.0000 0.0000 0.0112 0.0000 0.0000


0.0000 0.0580 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0160 0.1120 0.0000 0.0000 0.0000 0.0180 0.0000 0.0000
0.1110 0.0090 0.0000
0.0560 0.0000 0.0000
0.0660 0.0200 0.0000
0.0970 0.0000 0.0000
0.0760 0.0120 0.0000

0.0825 0.0080 0.0000


0.0560 0.0000 0.0000
0.1110 0.0200 0.0000
c.775A>G c.868A>G c.929T>C c.934C>T c.967G>A c.1024G>A c.1057C>T c.1108A>G c.1181G>T

0.0050 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0080 0.0000 0.0000

0.0031 0.0000 0.0000 0.0031 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0050 0.0000 0.0000 0.0080 0.0000 0.0000

0.0002

0.0002

0.0000

0.0070
0.0000 0.0000
0.0000
0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0150 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0050 0.0000 0.0000 0.0000 0.0050 0.0000
0.0100 0.0000 0.0000 0.0000 0.0000 0.0000

0.0069 0.0000 0.0000 0.0000 0.0002 0.0000 0.0003 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0150 0.0000 0.0000 0.0000 0.0002 0.0000 0.0050 0.0000

0.0000

0.0000

0.0000
0.0000
0.0000
0.0000
0.0000
0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000

0.0000
0.0000 0.0000

0.0130
0.0000 0.0000
0.0000
0.0000 0.0000

0.0160
0.0000 0.0000
0.0000
0.0000
0.0000
0.0050 0.0000 0.0000 0.0000 0.0000 0.0000
0.0200 0.0000 0.0000 0.0000 0.0000 0.0000
0.0140 0.0000 0.0050 0.0000 0.0000 0.0000
0.0050 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0153 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0200 0.0000 0.0000 0.0000 0.0050 0.0000 0.0000 0.0000

0.0000

0.0000

0.0000 0.0000

0.0070
0.0002
0.0000
0.0000

0.0110 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0080 0.0000 0.0000 0.0000 0.0000
0.0060 0.0000 0.0000 0.0000 0.0000 0.0000
0.0140 0.0000 0.0000 0.0000 0.0000 0.0000

0.0073 0.0003 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0140 0.0080 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0090 0.0000 0.0000 0.0000 0.0040
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0020 0.0000 0.0000 0.0000 0.0009


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0090 0.0000 0.0000 0.0000 0.0040
c.1180C>T c.1260T>A c.1278G>T c.1294G>A c.1314T>G c.1349C>T c.1358C>G c.1403C>A

0.0000 0.0000 0.0000 0.0050 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0031 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0050 0.0000

0.0000

0.0000 0.0000 0.0000 0.0000

0.0000
0.0000
0.0000
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000

0.0000

0.0000
0.0006
0.0000
0.0000
0.0000

0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0050 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0007 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0050 0.0000 0.0000 0.0000

0.0000
0.0040 0.0000 0.0000 0.0000

0.0000
0.0000
0.0000

0.0000
0.0000
0.0002
0.0000
0.0000
0.0000
0.0000
0.0000
0.0000 0.0000 0.0000 0.0000 0.0050
0.0050 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0006 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0050 0.0000 0.0000 0.0000 0.0000 0.0000 0.0050

0.0001

0.0000
0.0000
0.0000
0.0001 0.0000
0.0001
0.0000

0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000

0.0001 0.0000 0.0000 0.0001 0.0000 0.0001 0.0000 0.0000


0.0001 0.0000 0.0000 0.0001 0.0000 0.0000 0.0000 0.0000
0.0001 0.0000 0.0000 0.0001 0.0000 0.0001 0.0000 0.0000
0.0000 0.0000 0.0000 0.0090 0.0000
0.0000 0.0000 0.0050 0.0000 0.0000
0.0000 0.0000 0.0050 0.0000 0.0000
0.0000 0.0000 0.0090 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0039 0.0020 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0090 0.0090 0.0000
c.1475C>T c.1484A>G c.1519G>A c.1543G>A c.1577C>G c.1615G>A c.1682G>T c.1775G>A

0.0000 0.0000
0.0000 0.0080

0.0000 0.0031
0.0000 0.0000
0.0000 0.0080

0.0002 0.0000

0.0000

0.0001

0.0000
0.0000
0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000

0.0002 0.0000 0.0000 0.0000 0.0000 0.0001 0.0000


0.0002 0.0000 0.0000 0.0000 0.0000 0.0001 0.0000
0.0002 0.0000 0.0000 0.0000 0.0000 0.0001 0.0000

0.0000

0.0000
0.0000

0.0000
0.0000
0.0000
0.0000

0.0000 0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000

0.0000
0.0000

0.0000

0.0000
0.0000 0.0000
0.0000
0.0000
0.0001
0.0000
0.0000
0.0000
0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000
0.0000 0.0000

0.0000 0.0000 0.0001 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0001 0.0000 0.0000 0.0000 0.0000

0.0000
0.0000
0.0000
0.0002
0.0000
0.0001
0.0000

0.0000 0.0000
0.0080 0.0000
0.0000 0.0000
0.0000 0.0000

0.0000 0.0000 0.0000 0.0003 0.0000 0.0001 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0001 0.0000
0.0000 0.0000 0.0000 0.0080 0.0000 0.0001 0.0000
0.0000 0.0090
0.0000 0.0000
0.0000 0.0000
0.0000 0.0050
0.0000 0.0060

0.0000 0.0041
0.0000 0.0000
0.0000 0.0090
c.1774C>T c.1777G>A c.1796T>C c.1905C>G c.1906A>C c.1990G>T c.2021G>A c.2161G>A

0.0000 0.0000 0.0000


0.0000 0.0000 0.0000

0.0000 0.0000 0.0000


0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0000

0.0001

0.0000 0.0000

0.0000
0.0000
0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0001


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0001

0.0000

0.0000

0.0017

0.0000

0.0000
0.0000
0.0000
0.0000

0.0000 0.0000 0.0000


0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0050 0.0000 0.0000
0.0000 0.0000 0.0000

0.0016 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0050 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0002
0.0000
0.0000 0.0000
0.0000
0.0000
0.0000
0.0000
0.0002

0.0001

0.0000
0.0000
0.0000
0.0000
0.0000
0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0050 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0000 0.0001 0.0001 0.0000 0.0000 0.0000 0.0002


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0001 0.0050 0.0000 0.0000 0.0000 0.0002

0.0000

0.0000
0.0000
0.0000
0.0000
0.0002
0.0000
0.0001

0.0000 0.0000 0.0000


0.0000 0.0000 0.0080
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0002 0.0000 0.0000 0.0002


0.0000 0.0000 0.0000 0.0000 0.0002 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0002 0.0000 0.0000 0.0080
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0050
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0000 0.0010


0.0000 0.0000 0.0000
0.0000 0.0000 0.0050
c.2186C>T c.2195T>G c.2279C>T c.2303C>A c.2336C>A c.2482G>A c.2582A>G c.2623A>C

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000

0.0060

0.0000

0.0000 0.0000
0.0001
0.0002
0.0000

0.0000 0.0060 0.0000 0.0000 0.0000 0.0060 0.0000


0.0000 0.0050 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0100 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0100 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0060 0.0000 0.0000 0.0001 0.0003 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0100 0.0000 0.0000 0.0001 0.0060 0.0000

0.0020
0.0000

0.0000
0.0000
0.0008
0.0000
0.0000
0.0001

0.0000 0.0000 0.0000 0.0050 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0050 0.0000 0.0000 0.0050
0.0000 0.0000 0.0050 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0018 0.0010 0.0000 0.0000 0.0003


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0050 0.0050 0.0000 0.0000 0.0050

0.0000 0.0000

0.0000 0.0000
0.0000 0.0000

0.0000
0.0000
0.0000

0.0000

0.0000
0.0000
0.0000
0.0001
0.0000
0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0050 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0001 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0050 0.0000 0.0000

0.0000
0.0000

0.0000
0.0000
0.0000
0.0000
0.0000
0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0090 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000

0.0019 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0090 0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
c.2639G>T c.2656C>T c.2872A>G c.2915A>G c.2921A>T c.2933A>G c.2978T>G c.2977C>T

0.0100 0.0000 0.0000


0.0080 0.0000 0.0000

0.0092 0.0000 0.0000


0.0080 0.0000 0.0000
0.0100 0.0000 0.0000

0.0000 0.0000 0.0000

0.0000
0.0007
0.0010

0.0000 0.0000 0.0000


0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0007 0.0010 0.0000 0.0000 0.0000 0.0000


0.0007 0.0010 0.0000 0.0000 0.0000 0.0000
0.0007 0.0010 0.0000 0.0000 0.0000 0.0000

0.0000

0.0000 0.0000

0.0000
0.0000
0.0001

0.0000 0.0000 0.0000


0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0001 0.0000 0.0000 0.0000 0.0000


0.0000 0.0001 0.0000 0.0000 0.0000 0.0000
0.0000 0.0001 0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0000


0.0000
0.0000
0.0000
0.0004
0.0000 0.0000
0.0000
0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0004 0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0004 0.0000 0.0000 0.0000 0.0000

0.0000

0.0000
0.0004

0.0001
0.0001
0.0000

0.0000 0.0000 0.0000


0.0000 0.0000 0.0080
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000

0.0000 0.0001 0.0000 0.0001 0.0000 0.0005


0.0000 0.0001 0.0000 0.0000 0.0000 0.0000
0.0000 0.0001 0.0000 0.0001 0.0000 0.0080
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0000 0.0000
0.0000 0.0090 0.0000
0.0000 0.0000 0.0000

0.0000 0.0019 0.0000


0.0000 0.0000 0.0000
0.0000 0.0090 0.0000
c.3049G>A c.3061G>C c.3067C>A c.525G>A c.1371C>T c.910T>C

0.0520 0.0000 0.0100 0.0000


0.0330 0.0000 0.0250 0.0000

0.0446 0.0000 0.0158 0.0000


0.0330 0.0000 0.0100 0.0000
0.0520 0.0000 0.0250 0.0000

0.0001

0.0000

0.0000 0.0001 0.0000


0.0001

0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000

0.0000 0.0001 0.0000 0.0000 0.0001 0.0001


0.0000 0.0001 0.0000 0.0000 0.0000 0.0000
0.0000 0.0001 0.0000 0.0000 0.0001 0.0001

0.0000 0.0000

0.0001
0.0000
0.0008
0.0000

0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0050
0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0000 0.0001 0.0000 0.0008


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0001 0.0000 0.0050

0.0000
0.0000 0.0000

0.0000
0.0000 0.0000

0.0000
0.0000 0.0000
0.0000
0.0001
0.0002

0.0000 0.0000 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000

0.0000 0.0001 0.0000 0.0000 0.0002 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0001 0.0000 0.0000 0.0002 0.0000

0.0000

0.0000
0.0000
0.0000
0.0010

0.0008

0.0000 0.0050 0.0000 0.0000


0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0000 0.0000

0.0000 0.0000 0.0009 0.0001 0.0007 0.0000


0.0000 0.0000 0.0000 0.0000 0.0000 0.0000
0.0000 0.0000 0.0010 0.0050 0.0008 0.0000
0.0270 0.0000 0.0220 0.0000
0.0200 0.0050 0.0300 0.0000
0.0300 0.0050 0.0200 0.0000
0.0420 0.0000 0.0230 0.0000
0.0590 0.0000 0.0060 0.0000

0.0348 0.0020 0.0207 0.0000


0.0200 0.0000 0.0060 0.0000
0.0590 0.0050 0.0300 0.0000
Methods:
The DPYD frequency table was created using data from ExAC (http://exac.broadinstitute.org/) and the 1000 Genom
The average allele frequencies by race were calculated by taking the number with the variant in all studies divided b
All nucleotide changes are according to reference sequence NM_000110.3 and all protein changes are according to
Caveats
If 1000 Genomes and/or ExAC did not return any frequency data for a given variant, cells were left blank

Biogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found a
from particular geographic locations into larger biogeographical groups. It is difficult to group populations with
different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped togeth
date Change Note
6/19/2017 Added nucleotide and protein changes
6/28/2017 Added note about HapB3 and 1129-5923C>G
10/30/2019 Updated to new standardized format and weighted average allele frequencies. Combined information
12/6/2019 Removed intronic and non-synonymous uncertain function variants: c.233+112G>T, c.234-93C>T, c.27
2/24/2020 Removed c.151-69G>A; variant was originally assigned decreased function because of its LD with rs11
2/24/2020 Removed c.680+139G>A; variant was originally assigned decreased function because of its possible co
2/26/2020 Removed intronic normal function variants: c.1129-15T>C, c.763-118A>G, c.1740+39C>T, c.1740+40A>
ncies. Combined information in ExAC allele number tab and previous references tab into new references tab. Converted to biog
+112G>T, c.234-93C>T, c.274C>G, c.484-145T>A, c.910T>C, c.1054C>G, c.1525-28A>G, c.1974+75A>G, c.2060A>C, c.2678A>G,
n because of its LD with rs115232898 (Y186C), which has decreased function, but a functional impact of c.151-69G>A by itself is
on because of its possible connection with the Hap3B haplotype, which has decreased function, but a functional impact of c.680
c.1740+39C>T, c.1740+40A>G, c.850+41T>C, c.958+134T>G, c.1340-106T>A, c.2300-39G>A, c.234-123G>C, c.850+91C>T, c.112
erences tab. Converted to biogeographical groups
5A>G, c.2060A>C, c.2678A>G, c.2948C>T
pact of c.151-69G>A by itself is uncertain. Original comment: This variant was found to be in linkage disequilibrium (D'=1) with t
but a functional impact of c.680+139G>A by itself is uncertain. Original comment: Incomplete association with HapB3 (SNP not e
4-123G>C, c.850+91C>T, c.1129-28G>T, c.681-8C>T
ge disequilibrium (D'=1) with the decreased function variant rs115232898 (Y186C); the decreased function associated with this
ociation with HapB3 (SNP not exclusive to HapB3 and therefore not a suitable proxy).
d function associated with this variant is likely due to this linkage.

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