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: 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: rs281865090
rs281865090
HPS1
2 0.925 0.200 10 98417664 missense variant A/G snv 0.010 < 0.001 1 2005 2005
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: rs750553908
rs750553908
TYR ; LOC107984363
2 0.925 0.160 11 89178546 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
5 0.851 0.160 11 89178117 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 1995 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: rs1800414
rs1800414
OCA2
4 0.851 0.200 15 27951891 missense variant T/A;C snv 4.0E-06; 4.5E-02 0.010 1.000 1 2014 2014
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
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: rs281865089
rs281865089
HPS1
2 0.925 0.200 10 98420153 stop gained C/G;T snv 4.0E-06 0.010 < 0.001 1 2005 2005
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: rs104894314
rs104894314
TYR ; LOC107984363
8 0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05 0.700 1.000 3 1991 2008
dbSNP: rs1207709557
rs1207709557
TYR ; LOC107984363
2 0.925 0.160 11 89227896 missense variant G/A snv 8.0E-06 0.700 0
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: 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
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: 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: 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: 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: 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