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: rs7953249
rs7953249
4 0.882 0.160 12 120965921 splice region variant G/A snv 0.59 0.700 1.000 1 2017 2017