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: rs121912946
rs121912946
2 0.925 0.160 6 33166736 missense variant C/T snv 0.700 1.000 3 1995 1998