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: rs121912823
rs121912823
5 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009