LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
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: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.020 0.500 2 2013 2015
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2009 2012
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
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: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1805388
rs1805388 		0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1805386
rs1805386 		0.925 0.080 13 108209565 synonymous variant A/G snv 0.13 0.14
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: rs1805386
rs1805386 		0.925 0.080 13 108209565 synonymous variant A/G snv 0.13 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs1805386
rs1805386 		0.925 0.080 13 108209565 synonymous variant A/G snv 0.13 0.14
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs1805386
rs1805386 		0.925 0.080 13 108209565 synonymous variant A/G snv 0.13 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1805389
rs1805389 		0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06
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: rs1805389
rs1805389 		0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1805389
rs1805389 		0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1805389
rs1805389 		0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2232641
rs2232641 		0.851 0.160 13 108209297 missense variant T/C snv 1.5E-03 5.7E-04
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		Infections 0.010 1.000 1 2010 2010
dbSNP: rs2232641
rs2232641 		0.851 0.160 13 108209297 missense variant T/C snv 1.5E-03 5.7E-04
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs2232641
rs2232641 		0.851 0.160 13 108209297 missense variant T/C snv 1.5E-03 5.7E-04
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: rs2232641
rs2232641 		0.851 0.160 13 108209297 missense variant T/C snv 1.5E-03 5.7E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs143810759
rs143810759 		0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04
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 0.020 1.000 2 2010 2012
dbSNP: rs143810759
rs143810759 		0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012