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: rs1554897879
rs1554897879
1 10 87931085 stop gained C/A snv 0.700 0
dbSNP: rs121909224
rs121909224
35 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121909229
rs121909229
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.710 1.000 1 2016 2016
dbSNP: rs121909219
rs121909219
24 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 4 1999 2010
dbSNP: rs1057519724
rs1057519724
3 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 4 1999 2010
dbSNP: rs121913289
rs121913289
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 4 1999 2010