Search Summary
Search Criteria
Genotype Selection - Genes
8572
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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 6743 | Searched by gene symbols retrieved from gene search. |
eQTL Data | 1 - 48 of 48 | 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 | Retrieving... |
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 | PDLIM4 | PDZ and LIM domain 4 | 5 | : 132,257,696 - 132,273,454 | 603422 | |||||
| ||||||||||
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 | rs2126683633 | 5 | : 132,273,946 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | n/a |
2 | rs2126683584 | 5 | : 132,273,902 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | n/a |
3 | rs2126683531 | 5 | : 132,273,829 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | n/a |
4 | rs2126683493 | 5 | : 132,273,795 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | Yes |
5 | rs2126683445 | 5 | : 132,273,742 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | n/a |
6 | rs2126683381 | 5 | : 132,273,653 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | Yes |
7 | rs2126683378 | 5 | : 132,273,649 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | n/a |
8 | rs2126683285 | 5 | : 132,273,518 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | Yes |
9 | rs2126683280 | 5 | : 132,273,503 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | Yes |
10 | rs2126683272 | 5 | : 132,273,490 | downstream_transcript_variant, 500B_downstream_variant | PDLIM4 | n/a |
11 | rs2126683173 | 5 | : 132,273,338 | 3_prime_UTR_variant | PDLIM4 | Yes |
12 | rs2126683060 | 5 | : 132,273,226 | 3_prime_UTR_variant | PDLIM4 | n/a |
13 | rs2126682923 | 5 | : 132,273,110 | 3_prime_UTR_variant | PDLIM4 | n/a |
14 | rs2126682667 | 5 | : 132,272,861 | 3_prime_UTR_variant | PDLIM4 | n/a |
15 | rs2126682611 | 5 | : 132,272,787 | 3_prime_UTR_variant | PDLIM4 | n/a |
16 | rs2126682590 | 5 | : 132,272,765 | 3_prime_UTR_variant | PDLIM4 | Yes |
17 | rs2126682556 | 5 | : 132,272,725 | 3_prime_UTR_variant | PDLIM4 | n/a |
18 | rs2126682381 | 5 | : 132,272,595 | 3_prime_UTR_variant | PDLIM4 | n/a |
19 | rs2126682365 | 5 | : 132,272,569 | 3_prime_UTR_variant | PDLIM4 | Yes |
20 | rs2126682363 | 5 | : 132,272,566 | 3_prime_UTR_variant | PDLIM4 | Yes |
21 | rs2126682323 | 5 | : 132,272,542 | 3_prime_UTR_variant | PDLIM4 | n/a |
22 | rs2126682264 | 5 | : 132,272,450 | 3_prime_UTR_variant | PDLIM4 | n/a |
23 | rs2126682236 | 5 | : 132,272,400 | 3_prime_UTR_variant | PDLIM4 | n/a |
24 | rs2126682220 | 5 | : 132,272,392 | 3_prime_UTR_variant | PDLIM4 | n/a |
25 | rs2126682064 | 5 | : 132,272,244 | 3_prime_UTR_variant | PDLIM4 | n/a |
26 | rs2126681651 | 5 | : 132,271,990 | intron_variant | PDLIM4 | n/a |
27 | rs2126681546 | 5 | : 132,271,916 | intron_variant | PDLIM4 | Yes |
28 | rs2126681420 | 5 | : 132,271,859 | intron_variant, missense_variant, coding_sequence_variant | PDLIM4 | Yes |
29 | rs2126680792 | 5 | : 132,271,525 | intron_variant, stop_gained, coding_sequence_variant | PDLIM4 | n/a |
30 | rs2126680746 | 5 | : 132,271,484 | intron_variant, frameshift_variant, coding_sequence_variant | PDLIM4 | Yes |
31 | rs2126680711 | 5 | : 132,271,471 | intron_variant, missense_variant, coding_sequence_variant | PDLIM4 | Yes |
32 | rs2126680708 | 5 | : 132,271,467 | splice_donor_variant, inframe_insertion, coding_sequence_variant | PDLIM4 | n/a |
33 | rs2126680675 | 5 | : 132,271,459 | coding_sequence_variant, synonymous_variant | PDLIM4 | n/a |
34 | rs2126680570 | 5 | : 132,271,392 | coding_sequence_variant, missense_variant | PDLIM4 | n/a |
35 | rs2126680355 | 5 | : 132,271,295 | intron_variant | PDLIM4 | n/a |
36 | rs2126680286 | 5 | : 132,271,241 | intron_variant | PDLIM4 | n/a |
37 | rs2126680122 | 5 | : 132,271,093 | splice_donor_variant | PDLIM4 | n/a |
38 | rs2126679914 | 5 | : 132,270,950 | coding_sequence_variant, synonymous_variant | PDLIM4 | Yes |
39 | rs2126679844 | 5 | : 132,270,910 | intron_variant | PDLIM4 | n/a |
40 | rs2126679791 | 5 | : 132,270,839 | intron_variant | PDLIM4 | Yes |
41 | rs2126679704 | 5 | : 132,270,734 | intron_variant | PDLIM4 | n/a |
42 | rs2126679695 | 5 | : 132,270,725 | intron_variant | PDLIM4 | n/a |
43 | rs2126679657 | 5 | : 132,270,687 | intron_variant | PDLIM4 | Yes |
44 | rs2126679635 | 5 | : 132,270,656 | intron_variant | PDLIM4 | n/a |
45 | rs2126679561 | 5 | : 132,270,595 | intron_variant | PDLIM4 | Yes |
46 | rs2126679541 | 5 | : 132,270,552 | intron_variant | PDLIM4 | n/a |
47 | rs2126679540 | 5 | : 132,270,550 | intron_variant | PDLIM4 | n/a |
48 | rs2126679535 | 5 | : 132,270,549 | intron_variant | PDLIM4 | n/a |
49 | rs2126679495 | 5 | : 132,270,518 | intron_variant | PDLIM4 | Yes |
50 | rs2126679489 | 5 | : 132,270,504 | intron_variant | PDLIM4 | Yes |
eQTL Data
1 - 48 of 48
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{ "section": "eqtl", "summary": "1 - 48 of 48"}
dbGaP Studies
No dbGaP study data found.
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{
"section": "GAP",
"summary": "No data found.",
"retstart": 0,
"pageSize": 50,
"count": ""
}