Search Summary
Search Criteria
Genotype Selection - Genes
23116
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Search Results
Association Results | 1 - 2 of 2 | 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 42138 | 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 - 9 of 9 | 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 | TOGARAM1 | TOG array regulator of axonemal microtubules 1 | 14 | : 44,962,190 - 45,074,431 | 617618 | |||||
| ||||||||||
Association Results
# |
Trait |
rs # |
Context |
Gene |
Location |
P-value |
Source |
Study |
Population | PubMed |
|
---|---|---|---|---|---|---|---|---|---|---|---|
1 | Platelet Function Tests | rs11850346 | intron | FAM179B | 14 | : 44,974,333 | 1.697 x 10-5 | dbGaP | phs000375 | African American | |
2 | Inflammatory Bowel Diseases | rs2899961 | intron | FAM179B | 14 | : 45,037,654 | 4.675 x 10-5 | dbGaP | phs000130 | European Middle East and North Africa [Arab] |
17068223 |
SNPs
# | rs# | Location | Function Class | Gene | Diversity | |
---|---|---|---|---|---|---|
1 | rs2139018990 | 14 | : 45,074,853 | 500B_downstream_variant, downstream_transcript_variant | TOGARAM1 | Yes |
2 | rs2139018764 | 14 | : 45,074,745 | 500B_downstream_variant, downstream_transcript_variant | TOGARAM1 | Yes |
3 | rs2139017993 | 14 | : 45,074,469 | 500B_downstream_variant, downstream_transcript_variant | TOGARAM1 | Yes |
4 | rs2139017975 | 14 | : 45,074,451 | 500B_downstream_variant, downstream_transcript_variant | TOGARAM1 | n/a |
5 | rs2139017635 | 14 | : 45,074,262 | 3_prime_UTR_variant, non_coding_transcript_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
6 | rs2139017603 | 14 | : 45,074,245 | 3_prime_UTR_variant, non_coding_transcript_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
7 | rs2139017474 | 14 | : 45,074,197 | 3_prime_UTR_variant, non_coding_transcript_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
8 | rs2139017037 | 14 | : 45,073,921 | 3_prime_UTR_variant, non_coding_transcript_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
9 | rs2139016999 | 14 | : 45,073,899 | 3_prime_UTR_variant, non_coding_transcript_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
10 | rs2139016962 | 14 | : 45,073,879 | 3_prime_UTR_variant, non_coding_transcript_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
11 | rs2139016655 | 14 | : 45,073,723 | 3_prime_UTR_variant, non_coding_transcript_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
12 | rs2139015807 | 14 | : 45,073,334 | coding_sequence_variant, 3_prime_UTR_variant, missense_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | TOGARAM1 | n/a |
13 | rs2139015745 | 14 | : 45,073,315 | coding_sequence_variant, stop_gained, 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | TOGARAM1 | Yes |
14 | rs2139015536 | 14 | : 45,073,208 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
15 | rs2139015446 | 14 | : 45,073,153 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
16 | rs2139015360 | 14 | : 45,073,104 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
17 | rs2139015188 | 14 | : 45,072,986 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
18 | rs2139015141 | 14 | : 45,072,960 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
19 | rs2139014909 | 14 | : 45,072,822 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
20 | rs2139014802 | 14 | : 45,072,763 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
21 | rs2139014780 | 14 | : 45,072,751 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
22 | rs2139014643 | 14 | : 45,072,652 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
23 | rs2139014255 | 14 | : 45,072,450 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
24 | rs2139013352 | 14 | : 45,071,965 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
25 | rs2139013203 | 14 | : 45,071,893 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
26 | rs2139013017 | 14 | : 45,071,831 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
27 | rs2139012724 | 14 | : 45,071,685 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
28 | rs2139012267 | 14 | : 45,071,483 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
29 | rs2139012116 | 14 | : 45,071,405 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
30 | rs2139012088 | 14 | : 45,071,385 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
31 | rs2139011966 | 14 | : 45,071,311 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
32 | rs2139011234 | 14 | : 45,071,011 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
33 | rs2139011056 | 14 | : 45,070,916 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
34 | rs2139010731 | 14 | : 45,070,739 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
35 | rs2139010707 | 14 | : 45,070,732 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
36 | rs2139010619 | 14 | : 45,070,684 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
37 | rs2139010506 | 14 | : 45,070,599 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
38 | rs2139010362 | 14 | : 45,070,522 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
39 | rs2139010264 | 14 | : 45,070,459 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
40 | rs2139009994 | 14 | : 45,070,280 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
41 | rs2139009798 | 14 | : 45,070,179 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
42 | rs2139009202 | 14 | : 45,069,915 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
43 | rs2139008895 | 14 | : 45,069,748 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
44 | rs2139008862 | 14 | : 45,069,721 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
45 | rs2139008735 | 14 | : 45,069,647 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
46 | rs2139008687 | 14 | : 45,069,625 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
47 | rs2139008585 | 14 | : 45,069,553 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
48 | rs2139008491 | 14 | : 45,069,507 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | Yes |
49 | rs2139008412 | 14 | : 45,069,464 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | n/a |
50 | rs2139008401 | 14 | : 45,069,452 | intron_variant, genic_downstream_transcript_variant | TOGARAM1 | 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 | Crohn Disease Colitis, Ulcerative Inflammatory Bowel Diseases Crohn Disease |
Case-Control | NIDDK IBDGC Crohn's Disease Genome-Wide Association Study | 1963 | Illumina: HumanHap300v1.1 |
2 | Colitis, Ulcerative Inflammatory Bowel Diseases Colitis, Ulcerative |
Case-Control | NIDDK IBD Genetics Consortium Ulcerative Colitis Genome-Wide Association Study | 1028 | Illumina: HumanHap300v2.0 Illumina: HumanHap550v3.0 |
3 | Crohn Disease Colitis, Ulcerative Inflammatory Bowel Diseases Crohn Disease |
Family | Genome Wide Association Study in Familial Crohn's Disease | 704 | Illumina: HumanOmni2.5-Quad |
4 | Pouchitis Inflammatory Bowel Diseases Colitis, Ulcerative Pouchitis |
Longitudinal | The Role of the Gut Microbiota in Ulcerative Colitis | 50 | Roche: 454 GS FLX Titanium Roche: 454 GS FLX Titanium |
5 | Inflammatory Bowel Diseases Crohn Disease Colitis, Ulcerative Pouchitis Adenomatous Polyposis Coli Inflammatory Bowel Diseases |
Case-Control | Mount Sinai Hospital (MSH, Toronto, CANADA) pelvic pouch microbiome study | 80 | Roche: 454 GS FLX Titanium |
6 | 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 |
7 | Inflammatory Bowel Diseases Crohn Disease Colitis, Ulcerative Inflammatory Bowel Diseases |
Case Set, Case-Control | Inflammatory Bowel Disease Exome Sequencing Study | 4626 | Illumina: ICE Capture Reagent Illumina: HiSeq X Ten |