DDB2, damage specific DNA binding protein 2, 1643

N. diseases: 118; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434640
rs121434640
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121434639
rs121434639
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		G 0.710 CausalMutation CLINVAR
dbSNP: rs121434641
rs121434641
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434642
rs121434642
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		T 0.700 CausalMutation CLINVAR
dbSNP: rs7395581
rs7395581
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0392885
Disease:
High density lipoprotein measurement 		G 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs2029298
rs2029298
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0024623
Disease:
Malignant neoplasm of stomach 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs2029298
rs2029298
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0699791
Disease:
Stomach Carcinoma 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs2029298
rs2029298
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0017154
Disease:
Gastritis, Atrophic 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs326222
rs326222
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0024623
Disease:
Malignant neoplasm of stomach 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs326222
rs326222
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0699791
Disease:
Stomach Carcinoma 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs326222
rs326222
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0017154
Disease:
Gastritis, Atrophic 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs3781619
rs3781619
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0024623
Disease:
Malignant neoplasm of stomach 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs3781619
rs3781619
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0699791
Disease:
Stomach Carcinoma 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs3781619
rs3781619
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0017154
Disease:
Gastritis, Atrophic 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs830083
rs830083
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0017154
Disease:
Gastritis, Atrophic 		0.010 GeneticVariation BEFREE Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). 26760766 2016
dbSNP: rs1281033732
rs1281033732
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		0.010 GeneticVariation BEFREE However, overexpressed p48 peptides containing the mutations found in three Ddb(-) XPE strains are inactive, and wild type p48 restores DDB activity to extracts from a fourth XPE Ddb(-) strain, GM01389, in which compound heterozygous mutations in DDB2 (p48) lead to a L350P change from one allele and a Asn-349 deletion from the other. 10777490 2000
dbSNP: rs4647728
rs4647728
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0005938
Disease:
Bone Density 		A 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs3758667
rs3758667
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1269683
Disease:
Major Depressive Disorder 		0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs3758667
rs3758667
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0525045
Disease:
Mood Disorders 		0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs121434640
rs121434640
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		0.800 GeneticVariation UNIPROT Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. 8798680 1996
dbSNP: rs121434639
rs121434639
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		0.710 GeneticVariation BEFREE The xeroderma pigmentosum group E (XP-E) causing K244E mutant of DDB2 found in patient XP82TO, supported UV-DDB dimerization but was found to slide on DNA and failed to stably engage lesions. 24760829 2014
dbSNP: rs7395581
rs7395581
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0392885
Disease:
High density lipoprotein measurement 		G 0.700 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
dbSNP: rs830083
rs830083
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE These findings indicate, for the first time, that the DDB2 rs830083 polymorphism may contribute to the etiology of lung cancer. 16522664 2006
dbSNP: rs830083
rs830083
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE These findings indicate, for the first time, that the DDB2 rs830083 polymorphism may contribute to the etiology of lung cancer. 16522664 2006
dbSNP: rs830083
rs830083
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE These findings indicate, for the first time, that the DDB2 rs830083 polymorphism may contribute to the etiology of lung cancer. 16522664 2006