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: rs4073582
rs4073582
4 0.925 0.120 11 66283241 splice region variant G/A;C snv 0.27 0.010 1.000 1 2016 2016