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: rs1192565382
rs1192565382
2 0.925 0.080 9 130884389 missense variant C/T snv 4.1E-06 0.010 1.000 1 2014 2014