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: rs1419039731
rs1419039731
SLC45A2
1 1.000 0.160 5 33944785 missense variant C/T snv 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: rs111277962
rs111277962
HPS1
1 1.000 0.160 10 98425641 missense variant C/A snv 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: 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: 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: rs281865090
rs281865090
HPS1
2 0.925 0.200 10 98417664 missense variant A/G snv 0.010 < 0.001 1 2005 2005
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: 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: rs61754388
rs61754388
TYR ; LOC107984363
6 0.827 0.160 11 89227904 missense variant C/A snv 3.4E-04 5.0E-04 0.700 1.000 9 1990 2011
dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
5 0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-04 0.710 1.000 5 1990 2008
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: 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: 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: 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: 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