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: rs200945454
rs200945454
2 0.925 0.040 4 147542593 missense variant G/A;C snv 0.010 1.000 1 2013 2013