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: rs2071747
rs2071747
4 0.851 0.120 22 35381192 missense variant G/C snv 4.3E-02 4.1E-02 0.010 < 0.001 1 2016 2016