Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.28285474T>C |
GRCh37.p13 chr 12 | NC_000012.11:g.28438407T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CCDC91 transcript | NM_018318.3:c. | N/A | Intron Variant |
CCDC91 transcript variant X2 | XM_005253413.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X2 | XM_005253414.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X3 | XM_006719104.2:c. | N/A | Intron Variant |
CCDC91 transcript variant X7 | XM_006719105.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X5 | XM_011520729.2:c. | N/A | Intron Variant |
CCDC91 transcript variant X19 | XM_011520734.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X15 | XM_011520735.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X5 | XM_017019569.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X9 | XM_017019570.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X10 | XM_017019571.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X10 | XM_017019572.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X13 | XM_017019574.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X15 | XM_017019575.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X16 | XM_017019576.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X17 | XM_017019577.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X14 | XM_005253415.1:c. | N/A | Genic Upstream Transcript Variant |
CCDC91 transcript variant X1 | XM_006719103.3:c. | N/A | Genic Upstream Transcript Variant |
CCDC91 transcript variant X8 | XM_011520731.2:c. | N/A | Genic Upstream Transcript Variant |
CCDC91 transcript variant X18 | XM_011520733.2:c. | N/A | Genic Upstream Transcript Variant |
CCDC91 transcript variant X12 | XM_017019573.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.336 | C=0.664 |
1000Genomes | American | Sub | 694 | T=0.040 | C=0.960 |
1000Genomes | East Asian | Sub | 1008 | T=0.000 | C=1.000 |
1000Genomes | Europe | Sub | 1006 | T=0.005 | C=0.995 |
1000Genomes | Global | Study-wide | 5008 | T=0.095 | C=0.905 |
1000Genomes | South Asian | Sub | 978 | T=0.000 | C=1.000 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.003 | C=0.997 |
The Genome Aggregation Database | African | Sub | 8700 | T=0.279 | C=0.721 |
The Genome Aggregation Database | American | Sub | 838 | T=0.030 | C=0.970 |
The Genome Aggregation Database | East Asian | Sub | 1614 | T=0.000 | C=1.000 |
The Genome Aggregation Database | Europe | Sub | 18482 | T=0.002 | C=0.997 |
The Genome Aggregation Database | Global | Study-wide | 29936 | T=0.084 | C=0.915 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.070 | C=0.930 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.133 | C=0.867 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.006 | C=0.994 |
PMID | Title | Author | Journal |
---|
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs6487673 | 2.54E-10 | alcohol consumption | pha001398 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr12 | 28401194 | 28401256 | E068 | -37151 |
chr12 | 28401267 | 28401335 | E068 | -37072 |
chr12 | 28401427 | 28401507 | E068 | -36900 |
chr12 | 28401536 | 28401649 | E068 | -36758 |
chr12 | 28401723 | 28402023 | E068 | -36384 |
chr12 | 28402495 | 28402645 | E071 | -35762 |
chr12 | 28402681 | 28402721 | E071 | -35686 |
chr12 | 28402749 | 28402836 | E071 | -35571 |
chr12 | 28402925 | 28403007 | E071 | -35400 |
chr12 | 28400902 | 28400994 | E074 | -37413 |
chr12 | 28401194 | 28401256 | E074 | -37151 |
chr12 | 28401267 | 28401335 | E074 | -37072 |
chr12 | 28401427 | 28401507 | E074 | -36900 |
chr12 | 28401536 | 28401649 | E074 | -36758 |