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: rs9344
rs9344
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.710 1.000 2 2013 2017
dbSNP: rs603965
rs603965
14 0.732 0.440 11 69648142 splice region variant G/A snv 0.700 1.000 1 2013 2013