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: rs1248634
rs1248634
1 1.000 10 77819464 splice region variant G/A snv 0.29 0.24 0.010 1.000 1 2009 2009