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: rs1460260991
rs1460260991
1 1.000 0.040 3 52203996 synonymous variant A/G snv 4.1E-06 0.010 1.000 1 1998 1998
dbSNP: rs200361165
rs200361165
1 1.000 0.040 3 52212412 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs797044558
rs797044558
2 0.925 0.160 X 75053585 missense variant C/T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs80356713
rs80356713
3 0.925 0.120 X 75070499 missense variant C/A;G snv 0.010 1.000 1 2001 2001
dbSNP: rs863223904
rs863223904
5 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs892041887
rs892041887
2 0.925 0.080 X 55009265 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1557248142
rs1557248142
2 0.925 0.080 X 55021182 missense variant G/T snv 0.700 0
dbSNP: rs541845688
rs541845688
2 0.925 0.160 2 219210782 missense variant C/T snv 4.4E-05 7.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs201062903
rs201062903
3 0.882 0.120 X 55013527 missense variant G/A snv 1.3E-03 1.2E-03 0.010 1.000 1 2007 2007
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 1999 1999
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 1999 1999