XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
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: rs768825050
rs768825050 		1.000 5 83204849 stop gained C/T snv 1.2E-05 2.8E-05
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs779773463
rs779773463 		1.000 5 83195935 stop gained C/T snv 8.1E-06 4.2E-05
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs797045016
rs797045016 		1.000 5 83258607 stop gained C/T snv
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs797045017
rs797045017 		1.000 5 83195936 missense variant G/A;T snv 4.1E-06
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 0
dbSNP: rs869320677
rs869320677 		1.000 5 83104943 frameshift variant C/- delins
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs869320678
rs869320678 		1.000 5 83104909 splice acceptor variant G/T snv
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs879255258
rs879255258 		1.000 5 83111134 missense variant T/A;G snv 4.1E-06
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs879255259
rs879255259 		1.000 5 83258544 frameshift variant G/- del
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs1056503
rs1056503 		0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2012 2013
dbSNP: rs1056503
rs1056503 		0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2012 2013
dbSNP: rs1805377
rs1805377 		0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2012 2013
dbSNP: rs1805377
rs1805377 		0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2012 2013
dbSNP: rs1805377
rs1805377 		0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1805377
rs1805377 		0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs2075686
rs2075686 		0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs2075686
rs2075686 		0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs2075686
rs2075686 		0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs28360317
rs28360317 		0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs28360317
rs28360317 		0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs28360317
rs28360317 		0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs28360317
rs28360317 		0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs28360317
rs28360317 		0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs3734091
rs3734091 		0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs3734091
rs3734091 		0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs3734091
rs3734091 		0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009