Search Summary
Search Criteria
Genotype Selection - Genes
139596
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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 46919 | Searched by gene symbols retrieved from gene search. |
eQTL Data | 1 - 46 of 46 | Searched by gene IDs retrieved from gene search. |
dbGaP Studies | Retrieving... | Searched by traits retrieved from 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 | UPRT | uracil phosphoribosyltransferase homolog | X | : 75,156,369 - 75,304,897 | 300656 | |||||
| ||||||||||
Association Results
# |
Trait |
rs # |
Context |
Gene |
Location |
P-value |
Source |
Study |
Population | PubMed |
|
---|---|---|---|---|---|---|---|---|---|---|---|
1 | Echocardiography | rs7886499 | intron | UPRT | X | : 75,286,551 | 9.339 x 10-7 | dbGaP | phs000342 | European | 17903301 |
2 | Echocardiography | rs7886499 | intron | UPRT | X | : 75,286,551 | 2.603 x 10-6 | dbGaP | phs000342 | European | 17903301 |
SNPs
# | rs# | Location | Function Class | Gene | Diversity | |
---|---|---|---|---|---|---|
1 | rs2147708355 | X | : 75,305,256 | downstream_transcript_variant, 500B_downstream_variant | UPRT | Yes |
2 | rs2147707807 | X | : 75,304,515 | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | Yes |
3 | rs2147707742 | X | : 75,304,456 | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | Yes |
4 | rs2147707721 | X | : 75,304,426 | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | Yes |
5 | rs2147707716 | X | : 75,304,423 | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | Yes |
6 | rs2147707696 | X | : 75,304,418 | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | Yes |
7 | rs2147707634 | X | : 75,304,319 | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | Yes |
8 | rs2147707595 | X | : 75,304,288 | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | n/a |
9 | rs2147707073 | X | : 75,303,556 | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | Yes |
10 | rs2147706857 | X | : 75,303,224 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
11 | rs2147706846 | X | : 75,303,211 | intron_variant, genic_downstream_transcript_variant | UPRT | n/a |
12 | rs2147706714 | X | : 75,303,023 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
13 | rs2147706690 | X | : 75,302,971 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
14 | rs2147706257 | X | : 75,302,315 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
15 | rs2147706073 | X | : 75,301,940 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
16 | rs2147706048 | X | : 75,301,914 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
17 | rs2147705943 | X | : 75,301,702 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
18 | rs2147705927 | X | : 75,301,666 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
19 | rs2147705886 | X | : 75,301,583 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
20 | rs2147705751 | X | : 75,301,332 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
21 | rs2147705653 | X | : 75,301,108 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
22 | rs2147705393 | X | : 75,300,780 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
23 | rs2147705179 | X | : 75,300,444 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
24 | rs2147704817 | X | : 75,299,758 | stop_gained, coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | UPRT | Yes |
25 | rs2147704727 | X | : 75,299,646 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
26 | rs2147704575 | X | : 75,299,435 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
27 | rs2147704302 | X | : 75,298,990 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
28 | rs2147703903 | X | : 75,298,334 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
29 | rs2147703895 | X | : 75,298,326 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
30 | rs2147703798 | X | : 75,298,187 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
31 | rs2147703540 | X | : 75,297,917 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
32 | rs2147703439 | X | : 75,297,693 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
33 | rs2147703415 | X | : 75,297,656 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
34 | rs2147703061 | X | : 75,297,149 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
35 | rs2147703045 | X | : 75,297,119 | intron_variant, genic_downstream_transcript_variant | UPRT | Yes |
36 | rs2147702821 | X | : 75,296,843 | intron_variant, genic_downstream_transcript_variant, downstream_transcript_variant | UPRT | Yes |
37 | rs2147702697 | X | : 75,296,637 | intron_variant, genic_downstream_transcript_variant, downstream_transcript_variant | UPRT | Yes |
38 | rs2147702481 | X | : 75,296,323 | intron_variant, 3_prime_UTR_variant | UPRT | n/a |
39 | rs2147702478 | X | : 75,296,314 | intron_variant, 3_prime_UTR_variant | UPRT | Yes |
40 | rs2147702330 | X | : 75,296,036 | intron_variant, 3_prime_UTR_variant | UPRT | n/a |
41 | rs2147702159 | X | : 75,295,769 | intron_variant, 3_prime_UTR_variant | UPRT | Yes |
42 | rs2147702085 | X | : 75,295,649 | intron_variant, 3_prime_UTR_variant | UPRT | Yes |
43 | rs2147701969 | X | : 75,295,423 | intron_variant, 3_prime_UTR_variant | UPRT | Yes |
44 | rs2147701947 | X | : 75,295,407 | intron_variant, 3_prime_UTR_variant | UPRT | Yes |
45 | rs2147701748 | X | : 75,295,144 | intron_variant, 3_prime_UTR_variant | UPRT | Yes |
46 | rs2147701708 | X | : 75,295,092 | intron_variant, 3_prime_UTR_variant | UPRT | Yes |
47 | rs2147701649 | X | : 75,295,018 | intron_variant, splice_acceptor_variant | UPRT | Yes |
48 | rs2147701511 | X | : 75,294,838 | intron_variant | UPRT | Yes |
49 | rs2147701474 | X | : 75,294,799 | intron_variant | UPRT | n/a |
50 | rs2147701304 | X | : 75,294,575 | missense_variant, intron_variant, coding_sequence_variant, non_coding_transcript_variant | UPRT | Yes |
eQTL Data
1 - 46 of 46
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{ "section": "eqtl", "summary": "1 - 46 of 46"}