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: rs1373425060
rs1373425060
AK3
2 0.925 0.120 9 4719290 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006