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: rs2230028
rs2230028
5 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2009 2009