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: rs267608229
rs267608229
PEX6
2 0.925 0.080 6 42966658 splice acceptor variant C/T snv 2.1E-05 0.700 1.000 4 1996 2015