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: rs1085308041
rs1085308041
12 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 4 2009 2017