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: rs199476100
rs199476100
2 0.925 0.120 16 2114489 missense variant A/G snv 4.3E-06 0.810 1.000 21 1996 2009