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: rs80357258
rs80357258
2 1.000 0.200 17 43045712 missense variant T/C snv 0.700 1.000 14 2003 2016