Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C3811653
Disease:
Experimental Organism Basal Cell Carcinoma
0.030 GeneticVariation BEFREE The polymorphisms XPD Asp312Asn and XPD Lys751Gln were not associated with risk of basal cell carcinoma. 15936590 2005
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C3811653
Disease:
Experimental Organism Basal Cell Carcinoma
0.030 GeneticVariation BEFREE We have previously reported that two polymorphisms in the gene, one silent mutation in codon 156 of exon 6 and one giving rise to a Lys-->Gln substitution in codon 751 of exon 23, showed signs of being associated with basal cell carcinoma in a Scandinavian study group of psoriasis patients and non-psoriatics with and without basal cell carcinoma [Dybdahl, Vogel, Frentz, Wallin and Nexø (1999) Cancer Epidemiol.Biomark.Prev., 8, 77-81]. 11375896 2001
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C3811653
Disease:
Experimental Organism Basal Cell Carcinoma
0.030 GeneticVariation BEFREE We have studied the role of two nucleotide substitutions in the XPD gene, one in exon 23 leading to an amino acid substitution (Lys751Gln) and one silent in exon 6 in relation to basal cell carcinoma (BCC). 9950243 1999
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C3811653
Disease:
Experimental Organism Basal Cell Carcinoma
0.010 GeneticVariation BEFREE The polymorphisms XPD Asp312Asn and XPD Lys751Gln were not associated with risk of basal cell carcinoma. 15936590 2005