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: rs80357389
rs80357389
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 10 2007 2019