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: rs121909658
rs121909658
8 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.010 1.000 1 1996 1996
dbSNP: rs121909665
rs121909665
2 0.925 0.160 2 48990629 missense variant G/T snv 0.010 1.000 1 2018 2018