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: rs181985043
rs181985043
8 0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs192518038
rs192518038
8 0.790 0.240 4 55547195 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs374778785
rs374778785
8 0.790 0.240 15 60627500 intron variant T/A snv 4.2E-05 0.010 1.000 1 2016 2016