Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.110902439T>C |
GRCh37.p13 chr 12 | NC_000012.11:g.111340243T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CCDC63 transcript variant 2 | NM_001286243.1:c. | N/A | Intron Variant |
CCDC63 transcript variant 3 | NM_001286244.1:c. | N/A | Intron Variant |
CCDC63 transcript variant 1 | NM_152591.2:c. | N/A | Intron Variant |
CCDC63 transcript variant X1 | XM_006719262.1:c. | N/A | Intron Variant |
CCDC63 transcript variant X4 | XM_006719263.2:c. | N/A | Intron Variant |
CCDC63 transcript variant X2 | XM_011537999.1:c. | N/A | Intron Variant |
CCDC63 transcript variant X3 | XM_011538001.2:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.589 | C=0.411 |
1000Genomes | American | Sub | 694 | T=0.600 | C=0.400 |
1000Genomes | East Asian | Sub | 1008 | T=0.796 | C=0.204 |
1000Genomes | Europe | Sub | 1006 | T=0.654 | C=0.346 |
1000Genomes | Global | Study-wide | 5008 | T=0.670 | C=0.330 |
1000Genomes | South Asian | Sub | 978 | T=0.710 | C=0.290 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.652 | C=0.348 |
The Genome Aggregation Database | African | Sub | 8694 | T=0.586 | C=0.414 |
The Genome Aggregation Database | American | Sub | 838 | T=0.630 | C=0.370 |
The Genome Aggregation Database | East Asian | Sub | 1618 | T=0.750 | C=0.250 |
The Genome Aggregation Database | Europe | Sub | 18430 | T=0.661 | C=0.338 |
The Genome Aggregation Database | Global | Study-wide | 29882 | T=0.644 | C=0.355 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.800 | C=0.200 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.633 | C=0.367 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.672 | C=0.328 |
PMID | Title | Author | Journal |
---|---|---|---|
24277619 | ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample. | Quillen EE | Am J Med Genet B Neuropsychiatr Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs10774610 | 1.67E-09 | alcohol consumption (maxi-drinks) | 24277619 |
rs10774610 | 0.000018 | alcohol dependence | 24277619 |
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 | 111332789 | 111332866 | E070 | -7377 |
chr12 | 111316432 | 111316650 | E081 | -23593 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr12 | 111325626 | 111326352 | E067 | -13891 |
chr12 | 111325626 | 111326352 | E068 | -13891 |
chr12 | 111325626 | 111326352 | E069 | -13891 |
chr12 | 111325471 | 111325541 | E071 | -14702 |
chr12 | 111325626 | 111326352 | E071 | -13891 |
chr12 | 111325626 | 111326352 | E072 | -13891 |
chr12 | 111325626 | 111326352 | E073 | -13891 |
chr12 | 111325626 | 111326352 | E074 | -13891 |
chr12 | 111325626 | 111326352 | E082 | -13891 |