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: rs1057516425
rs1057516425
ATP7B
1 1.000 0.160 13 51950006 splice donor variant C/T snv 0.700 1.000 2 2003 2015