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: rs112859779
rs112859779
1 1.000 0.080 8 66948134 missense variant C/A;G;T snv 7.6E-06; 1.7E-02 0.700 1.000 1 2019 2019