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: rs12976445
rs12976445
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs8111742
rs8111742
4 0.851 0.120 19 51692221 intron variant G/A;C snv 0.30 0.010 1.000 1 2019 2019