Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.030 GeneticVariation BEFREE Furthermore, the ERCC2 Asp312Asn polymorphism is associated with bladder, esophageal, and gastric cancers, but not with breast, head and neck, lung, prostate, and skin cancers, and non-Hodgkin lymphoma. 28489582 2017
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.030 GeneticVariation BEFREE For the XPD Asp312Asn polymorphism, no significant association with skin cancer risk was observed in overall or subgroup analyses. 25169498 2014
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.030 GeneticVariation BEFREE We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carcinoma, and 874 controls) along with exploratory analysis on the haplotype structure of the XPD gene. 15941969 2005
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.020 GeneticVariation BEFREE Overall, no significant associations were found between the XPD Lys751Gln polymorphism and skin cancer risk in any genetic model. 25169498 2014
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.020 GeneticVariation BEFREE We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carcinoma, and 874 controls) along with exploratory analysis on the haplotype structure of the XPD gene. 15941969 2005
dbSNP: rs41556519
rs41556519
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.010 GeneticVariation BEFREE However, there is marked clinical heterogeneity (including presence or absence of skin cancers or neurological degeneration) in these XPD/R683W patients, thus suggesting a contribution of the second allele. 19934020 2009