LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894420
rs104894420
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894418
rs104894418
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0026764
Disease:
Multiple Myeloma 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0023418
Disease:
leukemia 		0.700 GeneticVariation UNIPROT
dbSNP: rs1060499662
rs1060499662
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs587776663
rs587776663
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs751070095
rs751070095
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs751409106
rs751409106
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0238463
Disease:
Papillary thyroid carcinoma 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs772226399
rs772226399
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs104894420
rs104894420
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		0.810 GeneticVariation UNIPROT DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		0.810 GeneticVariation UNIPROT DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0342573
Disease:
PITUITARY DWARFISM I 		A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0024312
Disease:
Lymphopenia 		A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0013336
Disease:
Dwarfism 		A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C4048270
Disease:
Decreased antibody level in blood 		A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs375554612
rs375554612
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		C 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		G 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.030 GeneticVariation BEFREE These results suggest that hOGG1 may play an important role in the repair of 8-OH-dG adducts in the aerodigestive tract and that the hOGG1 Ser326Cys polymorphism plays an important role in risk for smoking- and alcohol-related orolaryngeal cancer. 12117782 2002
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006826
Disease:
Malignant Neoplasms 		0.030 GeneticVariation BEFREE These results suggest that hOGG1 may play an important role in the repair of 8-OH-dG adducts in the aerodigestive tract and that the hOGG1 Ser326Cys polymorphism plays an important role in risk for smoking- and alcohol-related orolaryngeal cancer. 12117782 2002