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: rs121918655
rs121918655
5 0.851 0.200 9 124493143 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs201340156
rs201340156
3 0.882 0.200 9 124500571 missense variant G/A;C snv 6.7E-05 0.010 1.000 1 2016 2016