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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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: 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2004 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: rs143810759
rs143810759 		0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2011 2011
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: 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: rs143810759
rs143810759 		0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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: 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: 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: 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: 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: 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: 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: rs3093739
rs3093739 		1.000 0.040 13 108215053 intron variant A/G snv 8.8E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2008 2008
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: 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: 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
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