Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs25487
rs25487
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.030 GeneticVariation BEFREE In the present study, we investigated the polymorphisms of the following selected members of the base and nucleotide excision repair genes: XPC (Lys939Gln), XPD (Lys751Gln), XRCC1(Arg399Gln), and hOGG1(Ser326Ser), and the risk they present toward the development of lung cancer, with emphasis on the effect of chromium exposure. 25300687 2015
dbSNP: rs25487
rs25487
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.030 GeneticVariation BEFREE In the present study, we investigated the polymorphisms of following selected DNA repair genes: XPC (Lys939Gln), XPD (Lys751Gln), hOGG1 (Ser326Cys) and XRCC1 (Arg399Gln), and the risks they present towards the development of lung cancer with the emphasis to gender differences within the Slovak population. 23673479 2013
dbSNP: rs25487
rs25487
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.030 GeneticVariation BEFREE Using genomic DNA extracted from blood samples, we identified wild-type and polymorphic variants of XPD (Arg156Arg and Lys751Gln), XRCC1 (Arg194Trp and Arg399Gln) and XRCC3 (Thr241Met), and the poly (AT) insertion/deletion of XPC (PAT). 15878910 2005