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: rs142600685
rs142600685
4 0.851 0.120 7 87549940 missense variant G/A snv 3.5E-04 4.4E-04 0.010 1.000 1 2013 2013