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: rs1555743003
rs1555743003
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs1555575860
rs1555575860
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1557781252
rs1557781252
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1566785990
rs1566785990
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
dbSNP: rs374052333
rs374052333
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs61750420
rs61750420
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs796052243
rs796052243
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs796052505
rs796052505
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0