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: rs80338828
rs80338828
6 0.851 0.200 22 36305975 missense variant C/T snv 0.810 1.000 1 2000 2000
dbSNP: rs121913657
rs121913657
4 0.882 0.160 22 36348950 missense variant G/A snv 0.700 1.000 5 2002 2016