Search Summary
Search Criteria
Genotype Selection - Genes
100133234
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Search Results
Association Results | 1 - 24 of 24 | 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 3810 | Searched by gene symbols retrieved from gene search. |
eQTL Data | 1 - 2 of 2 | Searched by gene IDs retrieved from gene search. |
dbGaP Studies | Retrieving... | 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 | SBF1P1 | SET binding factor 1 pseudogene 1 | 8 | : 55,455,321 - 55,449,197 | ||||||
| ||||||||||
Association Results
SNPs
# | rs# | Location | Function Class | Gene | Diversity | |
---|---|---|---|---|---|---|
1 | rs2129397327 | 8 | : 55,457,153 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | Yes |
2 | rs2129397294 | 8 | : 55,457,014 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | n/a |
3 | rs2129397262 | 8 | : 55,456,739 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | Yes |
4 | rs2129397221 | 8 | : 55,456,374 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | Yes |
5 | rs2129397207 | 8 | : 55,456,286 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | Yes |
6 | rs2129397204 | 8 | : 55,456,266 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | Yes |
7 | rs2129397203 | 8 | : 55,456,265 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | Yes |
8 | rs2129397202 | 8 | : 55,456,263 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | Yes |
9 | rs2129397177 | 8 | : 55,456,111 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | Yes |
10 | rs2129397148 | 8 | : 55,455,823 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | n/a |
11 | rs2129397141 | 8 | : 55,455,735 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | n/a |
12 | rs2129397134 | 8 | : 55,455,665 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | n/a |
13 | rs2129397125 | 8 | : 55,455,624 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | n/a |
14 | rs2129397099 | 8 | : 55,455,447 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | XKR4, SBF1P1 | n/a |
15 | rs2129397072 | 8 | : 55,455,281 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
16 | rs2129397061 | 8 | : 55,455,263 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
17 | rs2129397054 | 8 | : 55,455,244 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
18 | rs2129397051 | 8 | : 55,455,219 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
19 | rs2129397049 | 8 | : 55,455,197 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
20 | rs2129397021 | 8 | : 55,455,081 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
21 | rs2129397004 | 8 | : 55,454,972 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
22 | rs2129396987 | 8 | : 55,454,871 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
23 | rs2129396977 | 8 | : 55,454,827 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
24 | rs2129396973 | 8 | : 55,454,825 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
25 | rs2129396969 | 8 | : 55,454,821 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
26 | rs2129396962 | 8 | : 55,454,790 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
27 | rs2129396942 | 8 | : 55,454,699 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
28 | rs2129396936 | 8 | : 55,454,655 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
29 | rs2129396935 | 8 | : 55,454,651 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
30 | rs2129396931 | 8 | : 55,454,629 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
31 | rs2129396886 | 8 | : 55,454,440 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
32 | rs2129396882 | 8 | : 55,454,423 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
33 | rs2129396879 | 8 | : 55,454,411 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
34 | rs2129396874 | 8 | : 55,454,381 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
35 | rs2129396770 | 8 | : 55,453,924 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
36 | rs2129396762 | 8 | : 55,453,905 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
37 | rs2129396746 | 8 | : 55,453,836 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
38 | rs2129396743 | 8 | : 55,453,824 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
39 | rs2129396718 | 8 | : 55,453,748 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
40 | rs2129396691 | 8 | : 55,453,629 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
41 | rs2129396685 | 8 | : 55,453,591 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
42 | rs2129396678 | 8 | : 55,453,546 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
43 | rs2129396668 | 8 | : 55,453,501 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
44 | rs2129396650 | 8 | : 55,453,433 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
45 | rs2129396646 | 8 | : 55,453,407 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
46 | rs2129396645 | 8 | : 55,453,378 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
47 | rs2129396598 | 8 | : 55,453,047 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
48 | rs2129396575 | 8 | : 55,452,931 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
49 | rs2129396574 | 8 | : 55,452,923 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | Yes |
50 | rs2129396538 | 8 | : 55,452,662 | non_coding_transcript_variant, intron_variant | XKR4, SBF1P1 | n/a |
eQTL Data
1 - 2 of 2
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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 | 0 | 11 | 5 | 10 | 5622 | 28122634 | phs000342 | phs000363 |
⇩ | 87 | GTEx_Uterus | 1 | 0 | 1 | 1 | 89 | 23715323 | phs000424.v6 | phs000424.v6 |