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: rs2491231
rs2491231
2 0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61 0.010 1.000 1 2019 2019