Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201497300
rs201497300
ATP7B
0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.820 1.000 15 1989 2016
dbSNP: rs201497300
rs201497300
ATP7B
0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0