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: rs75493593
rs75493593
3 0.925 0.080 17 7041768 missense variant G/C;T snv 8.0E-06; 5.4E-02 0.020 1.000 2 2016 2019