Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 13 | NC_000013.11:g.87042816C>A |
GRCh37.p13 chr 13 | NC_000013.10:g.87695071C>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC105370301 transcript variant X1 | XR_931623.2:n. | N/A | Intron Variant |
LOC105370301 transcript variant X2 | XR_931624.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.982 | A=0.018 |
1000Genomes | American | Sub | 694 | C=0.940 | A=0.060 |
1000Genomes | East Asian | Sub | 1008 | C=0.968 | A=0.032 |
1000Genomes | Europe | Sub | 1006 | C=0.908 | A=0.092 |
1000Genomes | Global | Study-wide | 5008 | C=0.943 | A=0.057 |
1000Genomes | South Asian | Sub | 978 | C=0.900 | A=0.100 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.896 | A=0.104 |
The Genome Aggregation Database | African | Sub | 8714 | C=0.971 | A=0.029 |
The Genome Aggregation Database | American | Sub | 838 | C=0.950 | A=0.050 |
The Genome Aggregation Database | East Asian | Sub | 1618 | C=0.954 | A=0.046 |
The Genome Aggregation Database | Europe | Sub | 18494 | C=0.914 | A=0.085 |
The Genome Aggregation Database | Global | Study-wide | 29964 | C=0.933 | A=0.066 |
The Genome Aggregation Database | Other | Sub | 300 | C=0.850 | A=0.150 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.931 | A=0.068 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.897 | A=0.103 |
PMID | Title | Author | Journal |
---|---|---|---|
23743675 | A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. | Kapoor M | Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs17614422 | 9.77E-05 | alcohol consumption | 23743675 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr13:87695071 | SLITRK5 | ENSG00000165300.6 | C>A | 7.2166e-3 | -629799 | Cerebellar_Hemisphere |
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.