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: rs1001581
rs1001581
1.000 0.080 19 43561236 intron variant C/T snv 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1041258260
rs1041258260
0.925 0.080 19 43552170 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1041258260
rs1041258260
0.925 0.080 19 43552170 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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: 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: rs139599857
rs139599857
0.882 0.120 19 43545922 missense variant C/G snv 1.6E-05 2.1E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs139599857
rs139599857
0.882 0.120 19 43545922 missense variant C/G snv 1.6E-05 2.1E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs139834892
rs139834892
0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04
CUI: C0023418
Disease: leukemia
leukemia
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs139834892
rs139834892
0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04
Myelofibrosis due to another disorder
0.010 1.000 1 2018 2018
dbSNP: rs139834892
rs139834892
0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
Neoplasms 0.010 1.000 1 2018 2018
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
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: rs1436873982
rs1436873982
0.925 0.200 19 43552212 missense variant G/A snv 8.0E-06
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: 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