ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907994
rs121907994
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.810 GeneticVariation CLINVAR
dbSNP: rs560952220
rs560952220
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
G 0.810 GeneticVariation CLINVAR
dbSNP: rs776280797
rs776280797
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.810 CausalMutation CLINVAR
dbSNP: rs797045402
rs797045402
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.810 GeneticVariation CLINVAR
dbSNP: rs121908001
rs121908001
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.800 CausalMutation CLINVAR
dbSNP: rs191312027
rs191312027
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT
dbSNP: rs193922103
rs193922103
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
C 0.800 GeneticVariation CLINVAR
dbSNP: rs193922107
rs193922107
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT
dbSNP: rs200911496
rs200911496
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
C 0.800 GeneticVariation CLINVAR
dbSNP: rs28942075
rs28942075
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.800 GeneticVariation CLINVAR
dbSNP: rs372436901
rs372436901
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
G 0.800 CausalMutation CLINVAR
dbSNP: rs41292782
rs41292782
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT
dbSNP: rs41292782
rs41292782
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.800 CausalMutation CLINVAR
dbSNP: rs587783299
rs587783299
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
G 0.800 CausalMutation CLINVAR
dbSNP: rs587783307
rs587783307
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
G 0.800 CausalMutation CLINVAR
dbSNP: rs587783317
rs587783317
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.800 CausalMutation CLINVAR
dbSNP: rs587783318
rs587783318
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.800 GeneticVariation CLINVAR
dbSNP: rs72552259
rs72552259
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.800 GeneticVariation CLINVAR
dbSNP: rs72552285
rs72552285
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.800 GeneticVariation CLINVAR
dbSNP: rs749085322
rs749085322
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
C 0.800 GeneticVariation CLINVAR
dbSNP: rs1045194246
rs1045194246
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.700 CausalMutation CLINVAR
dbSNP: rs1052485948
rs1052485948
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.700 GeneticVariation UNIPROT
dbSNP: rs1057516227
rs1057516227
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516228
rs1057516228
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516305
rs1057516305
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.700 GeneticVariation CLINVAR