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: rs142775522
rs142775522
1 1.000 0.080 1 158615332 missense variant T/G snv 1.1E-03 4.9E-03 0.700 0
dbSNP: rs1462060431
rs1462060431
1 1.000 0.080 1 158617532 splice region variant C/A;G snv 2.1E-05 0.700 0
dbSNP: rs1553231217
rs1553231217
1 1.000 0.080 1 158652551 stop gained C/T snv 0.700 0
dbSNP: rs1557230573
rs1557230573
1 1.000 0.080 X 154535205 missense variant C/T snv 0.700 0
dbSNP: rs1193184183
rs1193184183
1 1.000 0.080 X 154546076 missense variant T/C snv 1.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs121918641
rs121918641
3 0.882 0.080 1 158685289 missense variant C/A;T snv 4.1E-06; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs137852335
rs137852335
2 0.925 0.120 X 154532674 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1556323334
rs1556323334
2 0.925 0.080 X 139789451 missense variant G/T snv 0.010 1.000 1 2019 2019