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: rs148611340
rs148611340 		0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs148611340
rs148611340 		0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs148611340
rs148611340 		0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs148611340
rs148611340 		0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1799778
rs1799778 		1.000 0.120 19 43554989 intron variant G/T snv 0.31
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
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: 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: 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: 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
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.857 14 2009 2016
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.917 12 2002 2019
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.917 12 2002 2019
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 11 2012 2017
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.100 1.000 10 2005 2016
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.100 1.000 10 2005 2016
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.080 0.750 8 2008 2015
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.080 0.750 8 2008 2016
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.080 0.750 8 2008 2015
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.080 0.750 8 2008 2016
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.080 0.875 8 2009 2016
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.080 0.750 8 2008 2016
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.070 0.714 7 2009 2020
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.060 0.833 6 2006 2019