Source: ALL
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: rs1554251045
rs1554251045
ARG1 ; MED23
1 6 131582619 splice acceptor variant A/G snv 0.700 1.000 1 1995 1995