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: rs12587742
rs12587742
5 0.851 0.080 14 72926683 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2240980
rs2240980
3 0.882 0.080 14 72942975 non coding transcript exon variant C/A;G;T snv 0.35 0.010 1.000 1 2017 2017