Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 GeneticVariation BEFREE We suggest that the 399 Arg/Gln polymorphism of the XRCC1 gene may serve as a predictive risk factor of POAG. 26056729

2015
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE In this work, we evaluated associations between the repair efficiency of oxidative DNA lesions and single-nucleotide polymorphisms of BER genes: the 194Trp/Arg and the 399Arg/Gln XRCC1, the 326Ser/Cys OGG1 and the 324Gln/His MUTYH and CRC occurrence in a Polish population. 23618615

2013
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 GeneticVariation BEFREE Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His MUTYH gene polymorphisms with clinical parameters and the risk for development of primary open-angle glaucoma. 23499241

2013
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE However, the distributions of OGG1 Ser326Cys and XRCC1 Arg399Gln were not associated with a colorectal cancer risk. 18823566

2008
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 GeneticVariation BEFREE We observed a significant association between endometrial cancer risk and XRCC1 rs1799782 (C > T, Arg194Trp) and XRCC1 rs25487 (G > A, Arg399Gln). 24172093

2013
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 GeneticVariation BEFREE We observed a significant association between endometrial cancer risk and XRCC1 rs1799782 (C > T, Arg194Trp) and XRCC1 rs25487 (G > A, Arg399Gln). 24172093

2013
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation BEFREE The aim of this study was to evaluate the association of polymorphisms in genes encoding three key proteins of DNA base excision repair (BER): the OGG1 Ser326Cys, the MUTYH Tyr165Cys and the XRCC1 Arg399Gln with the risk of childhood acute lymphoblastic leukemia (ALL). 20364408

2011
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Arg399Gln is a SNP with some functional evidence and has been shown previously to be an important SNP associated with lung cancer, mostly for Asians. 19029194

2009
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Arg399Gln is a SNP with some functional evidence and has been shown previously to be an important SNP associated with lung cancer, mostly for Asians. 19029194

2009
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation BEFREE Arg399Gln is a SNP with some functional evidence and has been shown previously to be an important SNP associated with lung cancer, mostly for Asians. 19029194

2009
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE Since the analyses were adjusted for genetic ancestry, the observed association between Arg399Gln and NSCLC among Latinos is unlikely to be confounded by population stratification; however, this result needs to be confirmed by additional studies among the Latino population. 19029194

2009
dbSNP: rs369410616
rs369410616
MUTYH
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation BEFREE However, the distributions of OGG1 Ser326Cys and XRCC1 Arg399Gln were not associated with a colorectal cancer risk. 18823566

2008