Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917905
rs121917905
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
A 0.800 CausalMutation CLINVAR
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
G 0.800 CausalMutation CLINVAR
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
T 0.800 CausalMutation CLINVAR
dbSNP: rs751292948
rs751292948
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057518910
rs1057518910
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0009207
Disease:
Cockayne Syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1184760254
rs1184760254
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs1198472093
rs1198472093
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1198472093
rs1198472093
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1198472093
rs1198472093
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1198472093
rs1198472093
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1198472093
rs1198472093
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1198472093
rs1198472093
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs121917900
rs121917900
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
T 0.700 CausalMutation CLINVAR
dbSNP: rs121917901
rs121917901
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917901
rs121917901
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C4310783
Disease:
PREMATURE OVARIAN FAILURE 11
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917901
rs121917901
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917901
rs121917901
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C3551173
Disease:
UV-SENSITIVE SYNDROME 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917901
rs121917901
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0684249
Disease:
Carcinoma of lung
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917901
rs121917901
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C3151063
Disease:
MACULAR DEGENERATION, AGE-RELATED, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917902
rs121917902
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
CUI: C4310783
Disease:
PREMATURE OVARIAN FAILURE 11
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917902
rs121917902
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
CUI: C3151063
Disease:
MACULAR DEGENERATION, AGE-RELATED, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917902
rs121917902
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
CUI: C3551173
Disease:
UV-SENSITIVE SYNDROME 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917902
rs121917902
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
CUI: C0684249
Disease:
Carcinoma of lung
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917903
rs121917903
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C3551173
Disease:
UV-SENSITIVE SYNDROME 1
A 0.700 CausalMutation CLINVAR