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: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 < 0.001 2 2012 2018
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 < 0.001 2 2014 2018
dbSNP: rs1214285376
rs1214285376 		0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1214285376
rs1214285376 		0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1402607735
rs1402607735 		0.925 0.160 19 43575436 missense variant T/C snv 4.0E-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 < 0.001 1 2010 2010
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0699889
Disease: Malignant Female Reproductive System Neoplasm
Malignant Female Reproductive System Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2017 2017
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 < 0.001 1 2017 2017
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: 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: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 < 0.001 1 2018 2018
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: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 < 0.001 1 2013 2013
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C1333979
Disease: Hepatitis Virus-Related Hepatocellular Carcinoma
Hepatitis Virus-Related Hepatocellular Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2009 2009
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: C0238301
Disease: Cancer of Nasopharynx
Cancer of Nasopharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2014 2014
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: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0153392
Disease: Malignant neoplasm of nasopharynx
Malignant neoplasm of nasopharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2014 2014