Search Summary
Search Criteria
Genotype Selection - Genes
677831
Modify Search
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 1231 | Searched by gene symbols retrieved from gene search. |
eQTL Data | 1 - 4 of 4 | 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 | SNORA51 | small nucleolar RNA, H/ACA box 51 | 20 | : 2,655,067 - 2,655,198 | ||||||
| ||||||||||
Association Results
No association data found.
Modify Search
{
"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 | rs2146295504 | 20 | : 2,655,686 | synonymous_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORD57, SNORD56, SNOR... | n/a |
2 | rs2146295216 | 20 | : 2,655,484 | synonymous_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORD57, SNORD56, SNOR... | n/a |
3 | rs2146295211 | 20 | : 2,655,476 | missense_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
4 | rs2146294134 | 20 | : 2,654,946 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, splice_donor_variant, upstream_transcript_variant | NOP56, SNORD57, SNORD56, SNOR... | n/a |
5 | rs2146293958 | 20 | : 2,654,788 | missense_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, upstream_transcript_variant | NOP56, SNORD56, SNORA51, SNORD86 | n/a |
6 | rs2146293765 | 20 | : 2,654,685 | 2KB_upstream_variant, intron_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORD56, SNORA51, SNOR... | n/a |
7 | rs2146293736 | 20 | : 2,654,670 | 2KB_upstream_variant, intron_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORD56, SNORA51, SNOR... | Yes |
8 | rs2146293613 | 20 | : 2,654,586 | 2KB_upstream_variant, intron_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD86, SNOR... | n/a |
9 | rs2146293594 | 20 | : 2,654,578 | 2KB_upstream_variant, intron_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD86, SNOR... | n/a |
10 | rs2146293592 | 20 | : 2,654,576 | 2KB_upstream_variant, 500B_downstream_variant, splice_donor_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD86, SNOR... | n/a |
11 | rs2146293025 | 20 | : 2,654,314 | 2KB_upstream_variant, intron_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD86, SNOR... | n/a |
12 | rs2146292736 | 20 | : 2,654,172 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD86, SNOR... | n/a |
13 | rs2146292539 | 20 | : 2,654,074 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | Yes |
14 | rs2146292443 | 20 | : 2,654,002 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | n/a |
15 | rs2146292192 | 20 | : 2,653,906 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | n/a |
16 | rs2146292173 | 20 | : 2,653,893 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | n/a |
17 | rs2146292147 | 20 | : 2,653,884 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | n/a |
18 | rs2146292125 | 20 | : 2,653,870 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | Yes |
19 | rs2146291685 | 20 | : 2,653,578 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | n/a |
20 | rs2146291511 | 20 | : 2,653,486 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | Yes |
21 | rs2146291503 | 20 | : 2,653,482 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | n/a |
22 | rs2146291478 | 20 | : 2,653,458 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | n/a |
23 | rs2146291433 | 20 | : 2,653,442 | 2KB_upstream_variant, upstream_transcript_variant, intron_variant | NOP56, SNORA51, SNORD110, LOC... | n/a |
24 | rs2146291190 | 20 | : 2,653,336 | missense_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD110, MIR... | n/a |
25 | rs2146291140 | 20 | : 2,653,316 | missense_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD110, MIR... | n/a |
26 | rs2146290912 | 20 | : 2,653,233 | 2KB_upstream_variant, intron_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD110, MIR... | n/a |
27 | rs2146290851 | 20 | : 2,653,206 | 2KB_upstream_variant, intron_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD110, MIR... | n/a |
28 | rs2146290575 | 20 | : 2,653,089 | 2KB_upstream_variant, intron_variant, 500B_downstream_variant, upstream_transcript_variant, downstream_transcript_variant | NOP56, SNORA51, SNORD110, MIR... | n/a |
29 | rs2086807516 | 20 | : 2,655,673 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, missense_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
30 | rs2086807325 | 20 | : 2,655,662 | synonymous_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | n/a |
31 | rs2086806877 | 20 | : 2,655,618 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, missense_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
32 | rs2086806484 | 20 | : 2,655,600 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, missense_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
33 | rs2086805917 | 20 | : 2,655,555 | intron_variant, 2KB_upstream_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
34 | rs2086805823 | 20 | : 2,655,547 | intron_variant, 2KB_upstream_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
35 | rs2086805793 | 20 | : 2,655,543 | intron_variant, 2KB_upstream_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
36 | rs2086805757 | 20 | : 2,655,541 | intron_variant, 2KB_upstream_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
37 | rs2086805728 | 20 | : 2,655,540 | intron_variant, 2KB_upstream_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
38 | rs2086805634 | 20 | : 2,655,532 | intron_variant, 2KB_upstream_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
39 | rs2086805454 | 20 | : 2,655,513 | splice_donor_variant, 2KB_upstream_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
40 | rs2086805399 | 20 | : 2,655,505 | synonymous_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
41 | rs2086805358 | 20 | : 2,655,504 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, missense_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
42 | rs2086805084 | 20 | : 2,655,472 | synonymous_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
43 | rs2086804641 | 20 | : 2,655,429 | 2KB_upstream_variant, inframe_indel, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
44 | rs2086804618 | 20 | : 2,655,429 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, missense_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | n/a |
45 | rs2086804272 | 20 | : 2,655,405 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, missense_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
46 | rs2086804249 | 20 | : 2,655,403 | synonymous_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
47 | rs2086803830 | 20 | : 2,655,380 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, missense_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
48 | rs2086803147 | 20 | : 2,655,334 | synonymous_variant, 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
49 | rs2086803123 | 20 | : 2,655,331 | 2KB_upstream_variant, coding_sequence_variant, non_coding_transcript_variant, downstream_transcript_variant, upstream_transcript_variant, stop_gained, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
50 | rs2086803036 | 20 | : 2,655,323 | 2KB_upstream_variant, downstream_transcript_variant, upstream_transcript_variant, splice_acceptor_variant, 500B_downstream_variant | NOP56, SNORD57, SNORD56, SNOR... | Yes |
eQTL Data
1 - 4 of 4
Modify Search
Study | Result count | External references | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
⇩ | ID | Name | cis | trans | Markers | Probes | Subjects | PubMed ID | Ind. genotypes | Mol. phenotypes |
⇩ | 40 | FHS_eQTL | 0 | 2 | 1 | 2 | 5622 | 28122634 | phs000342 | phs000363 |
⇩ | 49 | GTEx_Artery_Aorta | 1 | 0 | 1 | 1 | 247 | 23715323 | phs000424.v6 | phs000424.v6 |
⇩ | 76 | GTEx_Ovary | 1 | 0 | 1 | 1 | 109 | 23715323 | phs000424.v6 | phs000424.v6 |
⇩ | 85 | GTEx_Testis | 1 | 0 | 1 | 1 | 199 | 23715323 | phs000424.v6 | phs000424.v6 |
dbGaP Studies
No dbGaP study data found.
Modify Search
{
"section": "GAP",
"summary": "No data found.",
"retstart": 0,
"pageSize": 50,
"count": ""
}