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: 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: 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: 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: 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
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: rs375554612
rs375554612 		1.000 0.160 13 108209365 frameshift variant T/- delins 3.7E-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 1.000 4 2001 2016
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: 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: rs751409106
rs751409106 		1.000 0.080 13 108209596 missense variant T/C;G snv 4.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
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