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: rs770692189
rs770692189
2 1.000 0.120 2 111123957 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2007 2015
dbSNP: rs757333753
rs757333753
6 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs962954379
rs962954379
1 1.000 0.120 2 169636474 missense variant A/C snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs17860403
rs17860403
3 0.882 0.160 2 201208114 missense variant C/T snv 2.4E-05 2.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs80358239
rs80358239
2 0.925 0.160 2 201209363 missense variant A/C;T snv 4.5E-03 0.020 1.000 2 2016 2019
dbSNP: rs13010627
rs13010627
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.020 1.000 2 2002 2006
dbSNP: rs17860405
rs17860405
1 1.000 0.120 2 201209484 missense variant A/G snv 3.0E-02 2.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1477247624
rs1477247624
1 1.000 0.120 2 201285277 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913535
rs121913535
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1564691414
rs1564691414
FAS
7 0.925 0.160 10 89007698 splice acceptor variant A/G snv 0.700 0
dbSNP: rs121913078
rs121913078
FAS
2 0.925 0.120 10 89008915 missense variant C/T snv 4.0E-06 0.700 1.000 13 1995 2010
dbSNP: rs1564696849
rs1564696849
FAS
2 0.925 0.160 10 89012082 splice donor variant G/A snv 0.700 0
dbSNP: rs121913079
rs121913079
FAS
1 1.000 0.120 10 89014137 missense variant A/G snv 0.700 1.000 13 1995 2010
dbSNP: rs121913076
rs121913076
FAS
2 0.925 0.120 10 89014163 missense variant A/C snv 0.700 1.000 13 1995 2010
dbSNP: rs201072885
rs201072885
FAS
1 1.000 0.120 10 89014164 missense variant C/A snv 6.0E-05 0.700 1.000 13 1995 2010
dbSNP: rs121913080
rs121913080
FAS
3 0.882 0.160 10 89014191 missense variant G/C snv 0.700 1.000 13 1995 2010
dbSNP: rs121913086
rs121913086
FAS
2 0.925 0.120 10 89014220 missense variant G/T snv 0.700 1.000 13 1995 2010
dbSNP: rs28929498
rs28929498
FAS
2 0.925 0.120 10 89014221 missense variant A/T snv 0.700 0
dbSNP: rs121913081
rs121913081
FAS
2 0.925 0.120 10 89014251 missense variant C/T snv 0.700 1.000 13 1995 2010