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: rs114368325
rs114368325
4 0.925 0.120 20 54158136 missense variant G/A;C snv 6.6E-04; 8.0E-06 0.700 1.000 2 2011 2011