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: rs2303380
rs2303380
2 1.000 0.040 11 113329987 splice region variant G/A snv 0.61 0.64 0.010 1.000 1 2017 2017