IL12A-AS1, IL12A antisense RNA 1, 101928376

N. diseases: 99; N. variants: 54
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: 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: 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: rs2366643
rs2366643 		1.000 0.080 3 160018698 intron variant T/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs480134
rs480134 		1.000 0.080 3 160011745 non coding transcript exon variant C/T snv 0.41
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: rs480913
rs480913 		1.000 0.080 3 160011793 non coding transcript exon variant T/G snv 0.41
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: rs483714
rs483714 		1.000 0.080 3 160012090 non coding transcript exon variant T/A;C 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: rs484600
rs484600 		1.000 0.080 3 160012174 intron variant A/C;G 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: rs485789
rs485789 		1.000 0.080 3 160012361 intron variant G/T snv 0.29
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: rs545232
rs545232 		1.000 0.080 3 160014244 intron variant C/T snv 0.41
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: rs568408
rs568408 		0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 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: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 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: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs571099
rs571099 		1.000 0.080 3 160014777 intron variant T/G snv 0.41
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: 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: 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: rs586094
rs586094 		1.000 0.080 3 160011761 non coding transcript exon variant T/G snv 0.41
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: rs587422
rs587422 		1.000 0.080 3 160012018 non coding transcript exon variant G/A;C 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: rs600519
rs600519 		1.000 0.080 3 160012630 intron variant G/A snv 0.41
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: rs62270414
rs62270414 		1.000 0.080 3 159921870 intron variant T/C snv 0.12
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: rs629209
rs629209 		1.000 0.080 3 160010926 intron variant C/G snv 0.41
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: rs6441288
rs6441288 		1.000 0.080 3 160015053 intron variant C/T snv 0.41
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: rs668998
rs668998 		0.925 0.120 3 159997764 non coding transcript exon variant G/A snv 0.63
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012