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: rs1214285376
rs1214285376 		0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
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: rs1214285376
rs1214285376 		0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs1214285376
rs1214285376 		0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1214285376
rs1214285376 		0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1214285376
rs1214285376 		0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1214285376
rs1214285376 		0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs148611340
rs148611340 		0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; 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: C0684249
Disease: Carcinoma of lung
Carcinoma 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
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: rs199613843
rs199613843 		0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs199613843
rs199613843 		0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs199613843
rs199613843 		0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs199613843
rs199613843 		0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06
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: rs199613843
rs199613843 		0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs199613843
rs199613843 		0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2228487
rs2228487 		1.000 0.040 19 43554740 missense variant C/A;T snv 4.0E-06; 4.9E-04
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs1402607735
rs1402607735 		0.925 0.160 19 43575436 missense variant T/C snv 4.0E-06
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
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: rs775174909
rs775174909 		1.000 0.080 19 43546720 missense variant T/C snv 4.1E-06
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010