Search Summary
Search Criteria
Genotype Selection - Genes
375057
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Search Results
Association Results | 1 - 7 of 7 | Searched by gene IDs retrieved from gene search. |
Genes | 1 - 1 of 1 | Searched by gene names and/or gene IDs. |
SNPs | 1 - 50 of 22053 | Searched by gene symbols retrieved from gene search. |
eQTL Data | 1 - 48 of 48 | Searched by gene IDs retrieved from gene search. |
dbGaP Studies | 1 - 45 of 45 | Searched by traits retrieved from association results. |
Genome View | 1 gene over 1 chromosome. |
Search Criteria
Select broad trait category to limit the items shown in the trait selection.
Select trait for search. Selection of a trait will limit the trait categories shown above.
Data shown are selected columns matching search criteria, taken directly from NCBI’s GTEx database and browser. This database aims to provide a central resource to archive and display associations between genetic variation and high-throughput molecular-level phenotypes. This effort originated with the NIH GTEx roadmap project; however the scope of this resource will be extended to include any available genotype/molecular phenotype datasets.
Celiac Disease
Gene Search: CDKAL1
Location: MHC region
Genes
# | Symbol | Description | Location | OMIM | ||||||
---|---|---|---|---|---|---|---|---|---|---|
1 | STUM | stum, mechanosensory transduction mediator homolog | 1 | : 226,548,764 - 226,609,230 | ||||||
| ||||||||||
Association Results
# |
Trait |
rs # |
Context |
Gene |
Location |
P-value |
Source |
Study |
Population | PubMed |
|
---|---|---|---|---|---|---|---|---|---|---|---|
1 | Schizophrenia | rs41314284 | UTR-3 | C1orf95 | 1 | : 226,602,300 | 2.000 x 10-6 | NHGRI | Arab | 26198764 | |
2 | Child Development Disorders, Pervasive | rs10916019 | intergenic | C1orf95, ITPKB | 1 | : 226,622,445 | 1.664 x 10-5 | dbGaP | phs000267 | European | |
3 | Child Development Disorders, Pervasive | rs708753 | intron | C1orf95 | 1 | : 226,597,829 | 4.477 x 10-5 | dbGaP | phs000267 | European | |
4 | Child Development Disorders, Pervasive | rs1461920 | UTR-3 | C1orf95 | 1 | : 226,606,824 | 5.248 x 10-5 | dbGaP | phs000267 | European | |
5 | Tunica Media | rs708748 | intron | C1orf95 | 1 | : 226,563,822 | 8.830 x 10-5 | dbGaP | phs000379 | African American | |
6 | Tunica Media | rs708749 | intron | C1orf95 | 1 | : 226,563,876 | 9.263 x 10-5 | dbGaP | phs000379 | African American | |
7 | Blood Pressure | rs506128 | intergenic | CDKN2AIPNLP1, C1orf95 | 1 | : 226,514,599 | 9.640 x 10-5 | dbGaP | phs000221 | European |
SNPs
# | rs# | Location | Function Class | Gene | Diversity | |
---|---|---|---|---|---|---|
1 | rs2102721767 | 1 | : 226,609,710 | downstream_transcript_variant, 500B_downstream_variant | STUM | Yes |
2 | rs2102721676 | 1 | : 226,609,603 | downstream_transcript_variant, 500B_downstream_variant | STUM | Yes |
3 | rs2102721660 | 1 | : 226,609,565 | downstream_transcript_variant, 500B_downstream_variant | STUM | Yes |
4 | rs2102721606 | 1 | : 226,609,449 | downstream_transcript_variant, 500B_downstream_variant | STUM | n/a |
5 | rs2102721583 | 1 | : 226,609,424 | downstream_transcript_variant, 500B_downstream_variant | STUM | n/a |
6 | rs2102721545 | 1 | : 226,609,361 | downstream_transcript_variant, 500B_downstream_variant | STUM | n/a |
7 | rs2102721544 | 1 | : 226,609,360 | downstream_transcript_variant, 500B_downstream_variant | STUM | n/a |
8 | rs2102721494 | 1 | : 226,609,310 | downstream_transcript_variant, 500B_downstream_variant | STUM | n/a |
9 | rs2102721487 | 1 | : 226,609,299 | downstream_transcript_variant, 500B_downstream_variant | STUM | Yes |
10 | rs2102721390 | 1 | : 226,609,167 | 3_prime_UTR_variant | STUM | Yes |
11 | rs2102721353 | 1 | : 226,609,134 | 3_prime_UTR_variant | STUM | n/a |
12 | rs2102721128 | 1 | : 226,608,899 | 3_prime_UTR_variant | STUM | n/a |
13 | rs2102721120 | 1 | : 226,608,884 | 3_prime_UTR_variant | STUM | n/a |
14 | rs2102721110 | 1 | : 226,608,877 | 3_prime_UTR_variant | STUM | Yes |
15 | rs2102721092 | 1 | : 226,608,865 | 3_prime_UTR_variant | STUM | Yes |
16 | rs2102720981 | 1 | : 226,608,791 | 3_prime_UTR_variant | STUM | Yes |
17 | rs2102720760 | 1 | : 226,608,505 | 3_prime_UTR_variant | STUM | Yes |
18 | rs2102720709 | 1 | : 226,608,439 | 3_prime_UTR_variant | STUM | n/a |
19 | rs2102720685 | 1 | : 226,608,412 | 3_prime_UTR_variant | STUM | n/a |
20 | rs2102720209 | 1 | : 226,607,791 | 3_prime_UTR_variant | STUM | Yes |
21 | rs2102720169 | 1 | : 226,607,747 | 3_prime_UTR_variant | STUM | n/a |
22 | rs2102720148 | 1 | : 226,607,733 | 3_prime_UTR_variant | STUM | n/a |
23 | rs2102719927 | 1 | : 226,607,471 | 3_prime_UTR_variant | STUM | n/a |
24 | rs2102719835 | 1 | : 226,607,377 | 3_prime_UTR_variant | STUM | n/a |
25 | rs2102719797 | 1 | : 226,607,338 | 3_prime_UTR_variant | STUM | n/a |
26 | rs2102719776 | 1 | : 226,607,309 | 3_prime_UTR_variant | STUM | Yes |
27 | rs2102719761 | 1 | : 226,607,299 | 3_prime_UTR_variant | STUM | n/a |
28 | rs2102719734 | 1 | : 226,607,271 | 3_prime_UTR_variant | STUM | Yes |
29 | rs2102719632 | 1 | : 226,607,154 | 3_prime_UTR_variant | STUM | n/a |
30 | rs2102719625 | 1 | : 226,607,148 | 3_prime_UTR_variant | STUM | n/a |
31 | rs2102719617 | 1 | : 226,607,123 | 3_prime_UTR_variant | STUM | n/a |
32 | rs2102719582 | 1 | : 226,607,099 | 3_prime_UTR_variant | STUM | n/a |
33 | rs2102719528 | 1 | : 226,607,030 | 3_prime_UTR_variant | STUM | n/a |
34 | rs2102719490 | 1 | : 226,606,965 | 3_prime_UTR_variant | STUM | n/a |
35 | rs2102719482 | 1 | : 226,606,956 | 3_prime_UTR_variant | STUM | n/a |
36 | rs2102719427 | 1 | : 226,606,899 | 3_prime_UTR_variant | STUM | Yes |
37 | rs2102719171 | 1 | : 226,606,634 | 3_prime_UTR_variant | STUM | n/a |
38 | rs2102719122 | 1 | : 226,606,580 | 3_prime_UTR_variant | STUM | n/a |
39 | rs2102719059 | 1 | : 226,606,498 | 3_prime_UTR_variant | STUM | Yes |
40 | rs2102719006 | 1 | : 226,606,420 | 3_prime_UTR_variant | STUM | n/a |
41 | rs2102718973 | 1 | : 226,606,391 | 3_prime_UTR_variant | STUM | Yes |
42 | rs2102718917 | 1 | : 226,606,282 | 3_prime_UTR_variant | STUM | n/a |
43 | rs2102718806 | 1 | : 226,606,171 | 3_prime_UTR_variant | STUM | Yes |
44 | rs2102718788 | 1 | : 226,606,139 | 3_prime_UTR_variant | STUM | n/a |
45 | rs2102718723 | 1 | : 226,606,026 | 3_prime_UTR_variant | STUM | n/a |
46 | rs2102718713 | 1 | : 226,606,010 | 3_prime_UTR_variant | STUM | n/a |
47 | rs2102718697 | 1 | : 226,605,999 | 3_prime_UTR_variant | STUM | n/a |
48 | rs2102718517 | 1 | : 226,605,837 | 3_prime_UTR_variant | STUM | n/a |
49 | rs2102718482 | 1 | : 226,605,797 | 3_prime_UTR_variant | STUM | Yes |
50 | rs2102718422 | 1 | : 226,605,725 | 3_prime_UTR_variant | STUM | Yes |
eQTL Data
1 - 48 of 48
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{ "section": "eqtl", "summary": "1 - 48 of 48"}
dbGaP Studies
# |
Disease |
Study Type |
Study Name |
Participants |
Platform |
---|---|---|---|---|---|
1 | Schizophrenia Psychotic Disorders Schizophrenia |
Case-Control | Molecular Genetics of Schizophrenia - nonGAIN Sample (MGS nonGAIN) | 3029 | Affymetrix: AFFY_6.0 |
2 | Schizophrenia Schizophrenia |
Case-Control | Genome-Wide Association Study of Schizophrenia | 5064 | Affymetrix: AFFY_6.0 |
3 | Autistic Disorder Child Development Disorders, Pervasive Autistic Disorder |
Multiplex Families | University of Miami Study on Genetics of Autism and Related Disorders (AutismDisorders) | 1202 | |
4 | Schizophrenia Schizophrenia |
Case-Control | Genetics of Schizophrenia in an Ashkenazi Jewish Case-Control Cohort | 3096 | Illumina: HumanOmni1-Quad_v1-0_B |
5 | Autistic Disorder Child Development Disorders, Pervasive Autistic Disorder |
Parent-Offspring Trios, Parent-Offspring Quads | Sporadic Autism Exomes Reveal a Highly Interconnected Protein Network of De Novo Mutations | 617 | Roche NimbleGen: SeqCap EZ Human Exome Library v2.0 Roche NimbleGen: SeqCap EZ Human Exome Library v1.0 Illumina: Genome Analyzer IIX Illumina: HiSeq 2000 |
6 | Schizophrenia Schizophrenia |
Case-Control | Whole Genome Profiling to Detect Schizophrenia Methylation Markers | 1459 | Thermo Fisher Scientific: MBD-seq |
7 | Psychiatry and Psychology Category Schizophrenia Schizoaffective disorder Attention Deficit Hyperactivity Disorder Seizures Oppositional defiant disorder Anxiety Depression Autism Autism Spectrum Disorders Bipolar Disorder Developmental Disabilities Ataxia Migraine Paranoid schizophrenia Obsessive compulsive disorder Kluver-Bucy syndrome Intellectual disability Psychiatry and Psychology Category |
Multiplex Families | Genetics of Neuropsychiatric and Neurodevelopmental Disorders | 162 | Illumina: HiSeq 2000 |
8 | Schizophrenia Schizophrenia |
Parent-Offspring Trios | Bulgarian Schizophrenia Trio Sequencing Study | 1826 | Agilent: SureSelect Human All Exon v.2 Kit Agilent: SureSelect Human All Exon v3 - 50Mb Roche NimbleGen: SeqCap EZ Human Exome Library v2.0 |
9 | Schizophrenia Schizophrenia |
Parent-Offspring Trios, Parent-Offspring Quads | Exome Sequencing in Schizophrenia Families | 216 | Roche NimbleGen: SeqCap EZ Human Exome Library v2.0 |
10 | Schizophrenia Schizophrenia |
Case-Control | Joint Genome-Wide Gene Expression and GWAS Mapping in the MGS Dataset | 859 | Illumina: HT12v4 |
11 | Population Genetics Type 2 Diabetes Mellitus Insulin Glucose Obesity Anthropometry Body Mass Index Bone Density Cholesterol, HDL Cholesterol, LDL Triglycerides Kidney Function Tests Uric Acid Gout Pancreatitis Macular Degeneration Hypertension Blood Pressure Menopause Menarche Alcohol Drinking Smoking Caffeine Red Blood Cell Count C Reactive Protein White Blood Cell Count Platelets Coronary Disease Myocardial Infarction Electrocardiography Asthma Neoplasms Population Genetics |
Cross-Sectional, Longitudinal, Nested Case-Control | Population Architecture using Genomics and Epidemiology (PAGE) | ||
12 | Tetralogy of Fallot Psychotic Disorders Schizophrenia Arthritis, Juvenile Tetralogy of Fallot |
Parent-Offspring Trios | Whole Genome Sequencing of Two 22q11DS Trios | 6 | Illumina: HiSeq 2000 |
13 | Obesity Adiposity Lipids Blood Pressure Obesity |
Cross-Sectional, Population | Genome-wide Association Study of Adiposity in Samoans | 3501 | Affymetrix: AFFY_6.0 |
14 | Hypercholesterolemia Asthma Arthritis, Rheumatoid Attention Deficit Disorder with Hyperactivity Bipolar Disorder Coronary Disease Depression Heart Failure Inflammatory Bowel Diseases Multiple Sclerosis Schizophrenia Stroke Hypercholesterolemia |
Cross-Sectional | eMERGE Clinical Center at Partners HealthCare | 4929 | Illumina: Infinium Multi-Ethnic Genotyping Array (MEGA) - Consortium Release .v1 |
15 | Schizophrenia Schizophrenia |
Case-Control | Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing | 12380 | Agilent: SureSelect Human All Exon v.1 Kit Agilent: SureSelect Human All Exon v.2 Kit |
16 | Hypertension Blood Pressure Hypertension |
Meta-Analysis | International Consortium for Blood Pressure (ICBP) | Illumina: Cardio-MetaboChip | |
17 | Coronary Artery Disease Cholesterol Insulin Blood Glucose Type 2 Diabetes C-Reactive Protein Blood Pressure Aging Smoking Body Mass Index Coronary Artery Disease |
Case-Control | NHLBI's BA23 in WHI | 2129 | Illumina: Infinium HumanMethylation450 BeadChip Applied Biosystems: TaqMan OpenArrays |
18 | Hypertension Aging Arterial Pressure Arteriosclerosis Atherosclerosis Biomarkers Blood Pressure Cardiovascular Diseases Cholesterol Cholesterol, HDL Cholesterol, LDL Coronary Artery Disease Diabetes Mellitus Echocardiography Endophenotypes Hyperglycemia Hyperinsulinism Hypertrophy, Left Ventricular Inflammation Kidney Failure, Chronic Leukoaraiosis Lipids Obesity Obesity, Abdominal Peripheral Arterial Disease Renal Insufficiency, Chronic Triglycerides Vascular Calcification Hypertension |
Sibling Cohort | Genetic Epidemiology Network of Arteriopathy (GENOA) | 3462 | Affymetrix: GenomeWideSNP_6 Illumina: Human660W-Quad BeadChip Illumina: Human1M-Duo BeadChip |
19 | Hypertension Aging Arterial Pressure Arteriosclerosis Atherosclerosis Biomarkers Blood Pressure Cardiovascular Diseases Cholesterol Cholesterol, HDL Cholesterol, LDL Coronary Artery Disease Diabetes Mellitus Echocardiography Endophenotypes Hyperglycemia Hyperinsulinism Hypertrophy, Left Ventricular Inflammation Kidney Failure, Chronic Leukoaraiosis Lipids Obesity Obesity, Abdominal Peripheral Arterial Disease Renal Insufficiency, Chronic Triglycerides Vascular Calcification Hypertension |
Sibling Cohort | Genetic Epidemiology Network of Arteriopathy (GENOA): GWAS Studies | 3039 | Affymetrix: GenomeWideSNP_6 Illumina: Human660W-Quad BeadChip Illumina: Human1M-Duo BeadChip |
20 | Autism Spectrum Disorder Schizophrenia Intellectual disability Epilepsy Autism Spectrum Disorder |
Cohort | A Single Cell Transcriptomic Analysis of Human Neocortical Development | 4 | Illumina: HiSeq 2500 |
21 | Arterial Pressure, Mean Blood Pressure Arterial Pressure, Mean |
Family, Interventional | Genetic Epidemiology Network of Salt Sensitivity (GenSalt) | 1675 | Affymetrix: AFFY_6.0 |