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: 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: rs2243112
rs2243112 		3 159987881 intron variant G/C snv 5.7E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2243112
rs2243112 		3 159987881 intron variant G/C snv 5.7E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2243112
rs2243112 		3 159987881 intron variant G/C snv 5.7E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2009 2017
dbSNP: rs2243115
rs2243115 		0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.667 3 2009 2017
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: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2012 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: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2012 2017
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.667 3 2009 2017
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2011 2017
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2009 2017
dbSNP: rs2243115
rs2243115 		0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2016
dbSNP: rs2243115
rs2243115 		0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2015 2015
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: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2011 2013
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: rs2243115
rs2243115 		0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2243115
rs2243115 		0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2243115
rs2243115 		0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2010 2010