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: rs397514601
rs397514601
3 0.882 0.040 11 77115423 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2015 2015