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: rs200349340
rs200349340
2 0.925 0.120 12 53962704 non coding transcript exon variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs4759313
rs4759313
4 0.851 0.120 12 53965290 intron variant T/A snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs4759314
rs4759314
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2019 2019