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: rs485499
rs485499
0.925 0.080 3 160028076 intron variant T/C snv 0.29
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs564799
rs564799
0.925 0.160 3 160011200 intron variant C/T snv 0.33
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs568408
rs568408
0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0018213
Disease: Graves Disease
Graves Disease
Eye Diseases; Immune System Diseases; Endocrine System 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: 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
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: rs76830965
rs76830965
0.925 0.120 3 159919889 intron variant C/A;G;T snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
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: 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: 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: rs545143
rs545143
1.000 0.080 3 160014208 intron variant C/A;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 2 2012 2012
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: rs1651081
rs1651081
1.000 0.080 3 160014715 intron variant A/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: rs1874886
rs1874886
0.925 0.280 3 160011868 non coding transcript exon 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: 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
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