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: rs1131692282
rs1131692282
PAX6
1 1.000 0.080 11 31806927 splice acceptor variant T/- del 0.700 0