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: rs8089
rs8089
4 0.851 0.080 6 169217631 splice region variant A/C snv 0.22 0.010 < 0.001 1 2011 2011