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: rs530390117
rs530390117
3 0.882 0.240 1 172659460 missense variant T/C snv 3.0E-04 2.1E-05 0.010 1.000 1 2007 2007