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: rs121917834
rs121917834
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.010 1.000 1 2015 2015