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: 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: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.100 0.615 13 2004 2016
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.100 0.615 13 2004 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: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.100 0.833 12 2005 2019
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.100 0.583 12 2004 2016
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: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.100 0.900 10 2004 2018
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.100 0.900 10 2004 2018
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.100 1.000 10 2007 2015
dbSNP: rs25489
rs25489 		0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.900 10 2001 2019
dbSNP: rs25489
rs25489 		0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.800 10 2004 2019
dbSNP: rs25489
rs25489 		0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.700 10 2009 2020
dbSNP: rs25489
rs25489 		0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.900 10 2001 2019
dbSNP: rs25489
rs25489 		0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.900 10 2001 2019
dbSNP: rs25489
rs25489 		0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.800 10 2004 2019
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.090 0.778 9 2005 2019
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.090 0.778 9 2005 2019
dbSNP: rs25489
rs25489 		0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.090 0.889 9 2012 2017
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