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: rs1566785990
rs1566785990
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
dbSNP: rs35135520
rs35135520
12 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
dbSNP: rs776019250
rs776019250
12 0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs758022116
rs758022116
13 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs267607093
rs267607093
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs387906799
rs387906799
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1557043622
rs1557043622
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019