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: 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: 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: 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
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1326656542
rs1326656542 		0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1566366148
rs1566366148 		1.000 0.160 13 108210469 frameshift variant CT/- delins
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 1 2013 2013
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: rs759838407
rs759838407 		0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs759838407
rs759838407 		0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs759838407
rs759838407 		0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs104894421
rs104894421 		0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.700 0
dbSNP: rs1060499662
rs1060499662 		1.000 0.160 13 108208948 missense variant A/G 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 0.700 0