IL12A, interleukin 12A, 3592

N. diseases: 261; N. variants: 7
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: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs582054
rs582054 		0.882 0.160 3 159992214 intron variant A/C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2012 2012
dbSNP: rs582054
rs582054 		0.882 0.160 3 159992214 intron variant A/C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2012 2012
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.030 1.000 3 2009 2017
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.030 1.000 3 2009 2017
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.030 1.000 3 2009 2017
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2012 2017
dbSNP: rs1003421753
rs1003421753 		1.000 0.120 3 159989088 missense variant C/T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C1367654
Disease: Marginal Zone B-Cell Lymphoma
Marginal Zone B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2243115
rs2243115 		0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2012 2017
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs582537
rs582537 		1.000 0.080 3 159992311 intron variant A/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 2 2012 2017
dbSNP: rs582054
rs582054 		0.882 0.160 3 159992214 intron variant A/C;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs647801
rs647801 		1.000 0.080 3 159989732 intron variant A/G snv 0.58
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2243115
rs2243115 		0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs582054
rs582054 		0.882 0.160 3 159992214 intron variant A/C;T snv
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016