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: rs786201161
rs786201161
5 0.882 0.080 1 17024076 splice acceptor variant T/C snv 0.700 1.000 5 2007 2014