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: rs2523989
rs2523989
5 0.827 0.280 6 30110498 missense variant C/T snv 0.12 0.12 0.700 1.000 1 2012 2012