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: rs7290898
rs7290898
1 1.000 0.160 22 30615293 splice region variant A/C;G;T snv 7.9E-02; 2.9E-04; 1.1E-03 0.700 1.000 1 2012 2012