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: rs2231292
rs2231292
3 1.000 0.040 15 52112665 missense variant A/C snv 0.41 0.48 0.010 1.000 1 2014 2014