XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2307184
rs2307184
19 43546079 missense variant G/T snv 3.0E-04 4.3E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs3213250
rs3213250
19 43574077 intron variant ATTTT/- delins 5.3E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs761564262
rs761564262
1.000 19 43546884 missense variant C/G snv 3.2E-05
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
0.700 1.000 1 2017 2017
dbSNP: rs754041352
rs754041352
1.000 0.080 19 43552051 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.878 49 2001 2019
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.878 49 2001 2019
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.921 38 2003 2019
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.921 38 2003 2019
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.921 38 2003 2019
dbSNP: rs1799782
rs1799782
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.920 25 2001 2018
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.100 0.960 25 2004 2016
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.100 0.960 25 2004 2017
dbSNP: rs1799782
rs1799782
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.917 24 2001 2018
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.100 0.833 24 2004 2016
dbSNP: rs1799782
rs1799782
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.818 22 2001 2015
dbSNP: rs1799782
rs1799782
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.818 22 2001 2015
dbSNP: rs1799782
rs1799782
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.818 22 2001 2015
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.100 0.842 19 2009 2020
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.100 0.750 16 2002 2018
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.100 0.813 16 2003 2018
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.100 0.750 16 2002 2018
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.100 0.800 15 2003 2017
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
Malignant neoplasm of colon and/or rectum
0.100 0.867 15 2004 2015
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.100 0.933 15 2010 2017
dbSNP: rs1799782
rs1799782
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.100 0.929 14 2010 2017