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: 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: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1395746092
rs1395746092 		19 43575449 missense variant T/C snv 7.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2004 2004
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0814138
Disease: upper GI cancer
upper GI cancer 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.030 1.000 3 2003 2005
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0850639
Disease: premalignant lesion
premalignant lesion 		0.010 < 0.001 1 2005 2005
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis 		Digestive System Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		Digestive System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0346202
Disease: Cervical Adenosquamous Carcinoma
Cervical Adenosquamous Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2005 2005
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0850639
Disease: premalignant lesion
premalignant lesion 		0.010 < 0.001 1 2005 2005
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis 		Digestive System Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs1436873982
rs1436873982 		0.925 0.200 19 43552212 missense variant G/A snv 8.0E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1436873982
rs1436873982 		0.925 0.200 19 43552212 missense variant G/A snv 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2006 2006