Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs201590781
rs201590781
OCA2
1 1.000 0.160 15 27966798 missense variant C/T snv 5.6E-05 8.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs201728087
rs201728087
HPS1
1 1.000 0.160 10 98425590 missense variant C/T snv 2.6E-04 1.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs368241718
rs368241718
VPS13B
1 1.000 0.160 8 99135701 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs538081629
rs538081629
TYR ; LOC107984363
1 1.000 0.160 11 89178674 missense variant G/A snv 3.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs751978811
rs751978811
SLC45A2
1 1.000 0.160 5 33984307 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
8 0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04 0.730 0.909 11 1993 2016
dbSNP: rs26722
rs26722
SLC45A2
1 1.000 0.160 5 33963765 missense variant C/T snv 0.12 5.9E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
7 0.807 0.160 11 89284805 missense variant C/T snv 3.8E-03; 4.0E-06 3.7E-03 0.700 1.000 17 1991 2017
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
8 0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 0.700 1.000 13 1997 2017
dbSNP: rs1444104997
rs1444104997
POT1
1 1.000 0.160 7 124851908 missense variant C/T snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs587778186
rs587778186
CDK4
1 1.000 0.160 12 57750765 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762183931
rs762183931
MC1R
1 1.000 0.160 16 89919778 missense variant G/A;C snv 8.6E-05; 8.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs80357090
rs80357090
BRCA1
3 0.882 0.200 17 43097266 missense variant C/T snv 3.0E-04 2.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs121907990
rs121907990
ATP7B
2 0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs28942074
rs28942074
ATP7B
4 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs61754375
rs61754375
TYR ; LOC107984363
3 0.882 0.240 11 89191278 missense variant G/A snv 6.8E-05 6.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1284013503
rs1284013503
OCA2
1 1.000 0.160 15 27951867 missense variant A/G snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs281865325
rs281865325
TYR ; LOC107984363
2 0.925 0.160 11 89284880 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019