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: rs113993967
rs113993967
5 0.851 0.240 3 189868597 missense variant G/A snv 0.010 1.000 1 2007 2007