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: rs797044953
rs797044953
3 1.000 3 9447684 splice acceptor variant A/T snv 0.700 1.000 26 1995 2018