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: rs146597587
rs146597587
1 1.000 0.080 9 6255967 splice acceptor variant G/C snv 2.2E-03 2.0E-03 0.720 1.000 3 2017 2019