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: rs121909218
rs121909218
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
dbSNP: rs1555738475
rs1555738475
12 0.776 0.400 19 1220707 frameshift variant G/- delins 0.700 0
dbSNP: rs2802292
rs2802292
6 0.851 0.160 6 108587315 intron variant G/T snv 0.50 0.010 1.000 1 2014 2014