Search Summary
Search Criteria
Genotype Selection - Genes
29078
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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 4092 | Searched by gene symbols retrieved from gene search. |
eQTL Data | 1 - 48 of 48 | 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 | NDUFAF4 | NADH:ubiquinone oxidoreductase complex assembly factor 4 | 6 | : 96,897,891 - 96,889,315 | 611776 | |||||
| ||||||||||
Association Results
# |
Trait |
rs # |
Context |
Gene |
Location |
P-value |
Source |
Study |
Population | PubMed |
|
---|---|---|---|---|---|---|---|---|---|---|---|
1 | Platelet Function Tests | rs12528971 | intergenic | GPR63, NDUFAF4 | 6 | : 96,870,330 | 2.530 x 10-6 | dbGaP | phs000375 | African American | |
2 | Platelet Function Tests | rs4839882 | intergenic | NDUFAF4, KLHL32 | 6 | : 96,912,543 | 5.830 x 10-6 | dbGaP | phs000375 | African American |
SNPs
# | rs# | Location | Function Class | Gene | Diversity | |
---|---|---|---|---|---|---|
1 | rs2127976389 | 6 | : 96,899,873 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
2 | rs2127976373 | 6 | : 96,899,797 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
3 | rs2127976372 | 6 | : 96,899,796 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
4 | rs2127976364 | 6 | : 96,899,771 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
5 | rs2127976338 | 6 | : 96,899,679 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
6 | rs2127976259 | 6 | : 96,899,336 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
7 | rs2127976248 | 6 | : 96,899,312 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
8 | rs2127976228 | 6 | : 96,899,195 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
9 | rs2127976208 | 6 | : 96,899,102 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
10 | rs2127976195 | 6 | : 96,899,033 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
11 | rs2127976174 | 6 | : 96,898,898 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
12 | rs2127976155 | 6 | : 96,898,858 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
13 | rs2127976140 | 6 | : 96,898,749 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
14 | rs2127976083 | 6 | : 96,898,598 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
15 | rs2127976078 | 6 | : 96,898,579 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
16 | rs2127976057 | 6 | : 96,898,462 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
17 | rs2127976043 | 6 | : 96,898,419 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
18 | rs2127976034 | 6 | : 96,898,393 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
19 | rs2127975987 | 6 | : 96,898,261 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
20 | rs2127975977 | 6 | : 96,898,227 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
21 | rs2127975965 | 6 | : 96,898,175 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
22 | rs2127975887 | 6 | : 96,898,015 | upstream_transcript_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
23 | rs2127975863 | 6 | : 96,897,962 | upstream_transcript_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
24 | rs2127975737 | 6 | : 96,897,723 | upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | NDUFAF4, KLHL32 | Yes |
25 | rs2127975670 | 6 | : 96,897,572 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
26 | rs2127975661 | 6 | : 96,897,555 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
27 | rs2127975659 | 6 | : 96,897,550 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
28 | rs2127975572 | 6 | : 96,897,405 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
29 | rs2127975485 | 6 | : 96,897,185 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
30 | rs2127975382 | 6 | : 96,896,980 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
31 | rs2127975375 | 6 | : 96,896,965 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
32 | rs2127975286 | 6 | : 96,896,749 | upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | NDUFAF4, KLHL32 | n/a |
33 | rs2127975278 | 6 | : 96,896,735 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
34 | rs2127975249 | 6 | : 96,896,658 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
35 | rs2127975218 | 6 | : 96,896,584 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
36 | rs2127975214 | 6 | : 96,896,571 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
37 | rs2127975191 | 6 | : 96,896,429 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
38 | rs2127975185 | 6 | : 96,896,405 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
39 | rs2127975128 | 6 | : 96,896,221 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
40 | rs2127975086 | 6 | : 96,896,106 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
41 | rs2127975025 | 6 | : 96,895,825 | intron_variant | NDUFAF4 | n/a |
42 | rs2127975024 | 6 | : 96,895,810 | intron_variant | NDUFAF4 | n/a |
43 | rs2127975019 | 6 | : 96,895,777 | intron_variant | NDUFAF4 | n/a |
44 | rs2127975016 | 6 | : 96,895,760 | intron_variant | NDUFAF4 | n/a |
45 | rs2127975010 | 6 | : 96,895,732 | intron_variant | NDUFAF4 | n/a |
46 | rs2127974980 | 6 | : 96,895,574 | intron_variant | NDUFAF4 | Yes |
47 | rs2127974968 | 6 | : 96,895,484 | intron_variant | NDUFAF4 | Yes |
48 | rs2127974959 | 6 | : 96,895,442 | intron_variant | NDUFAF4 | n/a |
49 | rs2127974950 | 6 | : 96,895,390 | intron_variant | NDUFAF4 | Yes |
50 | rs2127974949 | 6 | : 96,895,383 | intron_variant | NDUFAF4 | Yes |
eQTL Data
1 - 48 of 48
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{ "section": "eqtl", "summary": "1 - 48 of 48"}
dbGaP Studies
# | rs# | Location | Function Class | Gene | Diversity | |
---|---|---|---|---|---|---|
1 | rs2127976389 | 6 | : 96,899,873 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
2 | rs2127976373 | 6 | : 96,899,797 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
3 | rs2127976372 | 6 | : 96,899,796 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
4 | rs2127976364 | 6 | : 96,899,771 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
5 | rs2127976338 | 6 | : 96,899,679 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
6 | rs2127976259 | 6 | : 96,899,336 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
7 | rs2127976248 | 6 | : 96,899,312 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
8 | rs2127976228 | 6 | : 96,899,195 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
9 | rs2127976208 | 6 | : 96,899,102 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
10 | rs2127976195 | 6 | : 96,899,033 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
11 | rs2127976174 | 6 | : 96,898,898 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
12 | rs2127976155 | 6 | : 96,898,858 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
13 | rs2127976140 | 6 | : 96,898,749 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
14 | rs2127976083 | 6 | : 96,898,598 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
15 | rs2127976078 | 6 | : 96,898,579 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
16 | rs2127976057 | 6 | : 96,898,462 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
17 | rs2127976043 | 6 | : 96,898,419 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | Yes |
18 | rs2127976034 | 6 | : 96,898,393 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
19 | rs2127975987 | 6 | : 96,898,261 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
20 | rs2127975977 | 6 | : 96,898,227 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
21 | rs2127975965 | 6 | : 96,898,175 | upstream_transcript_variant, 5_prime_UTR_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | NDUFAF4, KLHL32 | n/a |
22 | rs2127975887 | 6 | : 96,898,015 | upstream_transcript_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
23 | rs2127975863 | 6 | : 96,897,962 | upstream_transcript_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
24 | rs2127975737 | 6 | : 96,897,723 | upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | NDUFAF4, KLHL32 | Yes |
25 | rs2127975670 | 6 | : 96,897,572 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
26 | rs2127975661 | 6 | : 96,897,555 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
27 | rs2127975659 | 6 | : 96,897,550 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
28 | rs2127975572 | 6 | : 96,897,405 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
29 | rs2127975485 | 6 | : 96,897,185 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
30 | rs2127975382 | 6 | : 96,896,980 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
31 | rs2127975375 | 6 | : 96,896,965 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
32 | rs2127975286 | 6 | : 96,896,749 | upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | NDUFAF4, KLHL32 | n/a |
33 | rs2127975278 | 6 | : 96,896,735 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
34 | rs2127975249 | 6 | : 96,896,658 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
35 | rs2127975218 | 6 | : 96,896,584 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
36 | rs2127975214 | 6 | : 96,896,571 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
37 | rs2127975191 | 6 | : 96,896,429 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
38 | rs2127975185 | 6 | : 96,896,405 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | Yes |
39 | rs2127975128 | 6 | : 96,896,221 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
40 | rs2127975086 | 6 | : 96,896,106 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | NDUFAF4, KLHL32 | n/a |
41 | rs2127975025 | 6 | : 96,895,825 | intron_variant | NDUFAF4 | n/a |
42 | rs2127975024 | 6 | : 96,895,810 | intron_variant | NDUFAF4 | n/a |
43 | rs2127975019 | 6 | : 96,895,777 | intron_variant | NDUFAF4 | n/a |
44 | rs2127975016 | 6 | : 96,895,760 | intron_variant | NDUFAF4 | n/a |
45 | rs2127975010 | 6 | : 96,895,732 | intron_variant | NDUFAF4 | n/a |
46 | rs2127974980 | 6 | : 96,895,574 | intron_variant | NDUFAF4 | Yes |
47 | rs2127974968 | 6 | : 96,895,484 | intron_variant | NDUFAF4 | Yes |
48 | rs2127974959 | 6 | : 96,895,442 | intron_variant | NDUFAF4 | n/a |
49 | rs2127974950 | 6 | : 96,895,390 | intron_variant | NDUFAF4 | Yes |
50 | rs2127974949 | 6 | : 96,895,383 | intron_variant | NDUFAF4 | Yes |