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: rs111277962
rs111277962
HPS1
1 1.000 0.160 10 98425641 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1195488663
rs1195488663
VPS13B
1 1.000 0.160 8 99136683 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1209759817
rs1209759817
VPS13B
1 1.000 0.160 8 99121366 missense variant A/G snv 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1235133629
rs1235133629
SLC24A5
1 1.000 0.160 15 48121147 missense variant C/T snv 0.010 1.000 1 2012 2012
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: rs1419039731
rs1419039731
SLC45A2
1 1.000 0.160 5 33944785 missense variant C/T snv 0.010 1.000 1 2015 2015
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: rs148066812
rs148066812
OCA2
1 1.000 0.160 15 28081769 missense variant G/A snv 8.2E-05 1.8E-04 0.010 1.000 1 2012 2012
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: 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: rs34731820
rs34731820
OCA2
1 1.000 0.160 15 27990583 missense variant A/G snv 8.7E-04 3.6E-03 0.010 1.000 1 2000 2000
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: rs3733808
rs3733808
SLC45A2
1 1.000 0.160 5 33944722 missense variant C/G;T snv 5.5E-04; 4.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs533478642
rs533478642
OCA2
1 1.000 0.160 15 27990644 missense variant C/T snv 1.5E-04 8.4E-05 0.010 1.000 1 2000 2000
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: rs577826548
rs577826548
OCA2
1 1.000 0.160 15 27851420 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2000 2000
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: 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: 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: rs772324459
rs772324459
OCA2
1 1.000 0.160 15 27983392 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs61754365
rs61754365
TYR ; LOC107984363
2 0.925 0.160 11 89178603 missense variant G/A;C;T snv 2.6E-04; 1.2E-05 0.700 1.000 3 2005 2009
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
2 0.925 0.160 11 89284924 missense variant G/A snv 4.0E-05 1.1E-04 0.700 1.000 2 2003 2008
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: rs143218168
rs143218168
OCA2
2 0.925 0.160 15 27985173 missense variant G/A;C snv 2.2E-04; 8.1E-06 0.010 1.000 1 2012 2012