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: rs864309688
rs864309688
3 0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06 0.010 1.000 1 2011 2011