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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: rs779426813
rs779426813 		13 108210989 missense variant T/C snv 2.0E-05 2.1E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs779426813
rs779426813 		13 108210989 missense variant T/C snv 2.0E-05 2.1E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs780879476
rs780879476 		0.925 0.160 13 108210656 frameshift variant A/- delins 5.6E-05 5.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2001 2016
dbSNP: rs780879476
rs780879476 		0.925 0.160 13 108210656 frameshift variant A/- delins 5.6E-05 5.6E-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 6 2001 2016
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: 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: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs772226399
rs772226399 		1.000 0.160 13 108209994 frameshift variant CTTTT/- delins 1.6E-04 2.6E-04
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
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