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: rs397514495
rs397514495
4 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.700 1.000 12 1992 2017