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: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2001 2016
dbSNP: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 8 2001 2016
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2002 2014
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2002 2014
dbSNP: rs10131
rs10131 		1.000 0.040 13 108207498 3 prime UTR variant C/T snv 0.12
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 2 2001 2014
dbSNP: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 2 2001 2014
dbSNP: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2001 2014
dbSNP: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2001 2014
dbSNP: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.700 1.000 2 2001 2014
dbSNP: rs104894420
rs104894420 		1.000 0.160 13 108209863 missense variant C/T snv
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases 0.810 1.000 2 2001 2004
dbSNP: rs104894421
rs104894421 		0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases 0.810 1.000 2 2001 2010
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2004 2012
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2004 2012
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2004 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: 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: rs10131
rs10131 		1.000 0.040 13 108207498 3 prime UTR variant C/T snv 0.12
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs10131
rs10131 		1.000 0.040 13 108207498 3 prime UTR variant C/T snv 0.12
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs104894418
rs104894418 		1.000 0.160 13 108209531 stop gained G/A;C snv 8.0E-06
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases 0.710 1.000 1 2004 2004
dbSNP: rs104894421
rs104894421 		0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2004 2004
dbSNP: rs104894421
rs104894421 		0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012