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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
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
dbSNP: rs587776663
rs587776663 		1.000 0.160 13 108209969 inframe deletion GTT/- 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 0
dbSNP: rs751070095
rs751070095 		1.000 0.160 13 108210386 frameshift variant ATTTC/- 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 0
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: 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: 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: 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: 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: 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: 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: 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: 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: 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: 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