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: rs121913452
rs121913452
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs138470268
rs138470268
1 1.000 21 17565541 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1407906280
rs1407906280
3 0.882 0.120 12 68839467 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs375678155
rs375678155
1 1.000 9 5064922 missense variant G/A;C;T snv 1.7E-05; 1.7E-05; 4.2E-06 0.010 1.000 1 2015 2015
dbSNP: rs387906695
rs387906695
2 0.925 0.240 17 68530283 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs730882025
rs730882025
21 0.724 0.360 17 7674885 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs897875994
rs897875994
NHS
1 1.000 X 17721466 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913448
rs121913448
5 0.827 0.120 9 130862976 missense variant G/A snv 0.020 1.000 2 2003 2007
dbSNP: rs387906517
rs387906517
6 0.827 0.120 9 130862919 missense variant G/A snv 0.020 1.000 2 2003 2007
dbSNP: rs748843032
rs748843032
8 0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06 0.070 1.000 7 2006 2019
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.100 0.882 17 2006 2019