Search Summary
Search Criteria
Genotype Selection - Genes
389199
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Search Results
Association Results | No data found. | 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 1888 | Searched by gene symbols retrieved from gene search. |
eQTL Data | 1 - 1 of 1 | Searched by gene IDs retrieved from gene search. |
dbGaP Studies | No data found. | Searched by traits retrieved from page 1 of 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 | LOC389199 | uncharacterized LOC389199 | 4 | : 7,939,001 - 7,940,296 | ||||||
| ||||||||||
Association Results
No association data found.
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{
"section": "assoc",
"summary": "No data found.",
"mesh": [
],
"genes": [],
"snps": [],
"page": 1,
"call": "BuildGaP",
"pageSize": 50,
"recCount": 0
}
SNPs
# | rs# | Location | Function Class | Gene | Diversity | |
---|---|---|---|---|---|---|
1 | rs2149252812 | 4 | : 7,940,740 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | Yes |
2 | rs2149252782 | 4 | : 7,940,697 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | n/a |
3 | rs2149252711 | 4 | : 7,940,615 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | Yes |
4 | rs2149252683 | 4 | : 7,940,586 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | Yes |
5 | rs2149252678 | 4 | : 7,940,578 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | Yes |
6 | rs2149252617 | 4 | : 7,940,516 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | Yes |
7 | rs2149252603 | 4 | : 7,940,486 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | Yes |
8 | rs2149252465 | 4 | : 7,940,316 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | n/a |
9 | rs2149252458 | 4 | : 7,940,306 | 500B_downstream_variant, 2KB_upstream_variant, upstream_transcript_variant, downstream_transcript_variant | AFAP1, LOC389199 | Yes |
10 | rs2149252413 | 4 | : 7,940,254 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | Yes |
11 | rs2149252398 | 4 | : 7,940,227 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | n/a |
12 | rs2149252369 | 4 | : 7,940,132 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | n/a |
13 | rs2149252328 | 4 | : 7,940,074 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | Yes |
14 | rs2149252292 | 4 | : 7,940,027 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | n/a |
15 | rs2149252276 | 4 | : 7,940,010 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | n/a |
16 | rs2149252272 | 4 | : 7,940,006 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | Yes |
17 | rs2149252253 | 4 | : 7,939,981 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | n/a |
18 | rs2149252114 | 4 | : 7,939,866 | 2KB_upstream_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | n/a |
19 | rs2149252092 | 4 | : 7,939,856 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, 5_prime_UTR_variant | AFAP1, LOC389199 | n/a |
20 | rs2149251883 | 4 | : 7,939,706 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, 5_prime_UTR_variant | AFAP1, LOC389199 | Yes |
21 | rs2149251818 | 4 | : 7,939,661 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, 5_prime_UTR_variant | AFAP1, LOC389199 | n/a |
22 | rs2149251806 | 4 | : 7,939,655 | genic_upstream_transcript_variant, splice_donor_variant, upstream_transcript_variant, non_coding_transcript_variant | AFAP1, LOC389199 | Yes |
23 | rs2149251785 | 4 | : 7,939,640 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
24 | rs2149251685 | 4 | : 7,939,592 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
25 | rs2149251673 | 4 | : 7,939,581 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
26 | rs2149251625 | 4 | : 7,939,545 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
27 | rs2149251613 | 4 | : 7,939,525 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
28 | rs2149251454 | 4 | : 7,939,380 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
29 | rs2149251449 | 4 | : 7,939,376 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
30 | rs2149251403 | 4 | : 7,939,345 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
31 | rs2149251390 | 4 | : 7,939,329 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
32 | rs2149251297 | 4 | : 7,939,249 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
33 | rs2149251288 | 4 | : 7,939,230 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
34 | rs2149251281 | 4 | : 7,939,221 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
35 | rs2149251270 | 4 | : 7,939,213 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
36 | rs2149251246 | 4 | : 7,939,198 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
37 | rs2149251239 | 4 | : 7,939,195 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
38 | rs2149251220 | 4 | : 7,939,184 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
39 | rs2149251147 | 4 | : 7,939,134 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
40 | rs2149251096 | 4 | : 7,939,101 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
41 | rs2149251071 | 4 | : 7,939,080 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
42 | rs2149251057 | 4 | : 7,939,069 | genic_upstream_transcript_variant, upstream_transcript_variant, non_coding_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
43 | rs2149250928 | 4 | : 7,938,946 | genic_upstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant, intron_variant | AFAP1, LOC389199 | n/a |
44 | rs2149250926 | 4 | : 7,938,939 | genic_upstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
45 | rs2149250870 | 4 | : 7,938,885 | genic_upstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
46 | rs2149250818 | 4 | : 7,938,845 | genic_upstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
47 | rs2149250740 | 4 | : 7,938,750 | genic_upstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant, 5_prime_UTR_variant, intron_variant | AFAP1, LOC389199 | Yes |
48 | rs2149250702 | 4 | : 7,938,710 | genic_upstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant, 5_prime_UTR_variant, intron_variant | AFAP1, LOC389199 | n/a |
49 | rs2149250637 | 4 | : 7,938,631 | genic_upstream_transcript_variant, 2KB_upstream_variant, coding_sequence_variant, upstream_transcript_variant, missense_variant, intron_variant | AFAP1, LOC389199 | n/a |
50 | rs2149250608 | 4 | : 7,938,588 | genic_upstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant, intron_variant | AFAP1, LOC389199 | Yes |
eQTL Data
1 - 1 of 1
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Study | Result count | External references | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
⇩ | ID | Name | cis | trans | Markers | Probes | Subjects | PubMed ID | Ind. genotypes | Mol. phenotypes |
⇩ | 40 | FHS_eQTL | 19 | 13 | 11 | 9 | 5622 | 28122634 | phs000342 | phs000363 |
dbGaP Studies
No dbGaP study data found.
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{
"section": "GAP",
"summary": "No data found.",
"retstart": 0,
"pageSize": 50,
"count": ""
}