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: rs1162844242
rs1162844242
2 0.925 0.120 3 38138711 missense variant G/T snv 7.0E-06 0.010 1.000 1 2014 2014