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: rs4751995
rs4751995
1 1.000 0.040 10 116638373 splice acceptor variant A/G;T snv 0.49 0.55 0.010 1.000 1 2018 2018