Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 16 | NC_000016.10:g.83123538C>A |
GRCh38.p7 chr 16 | NC_000016.10:g.83123538C>G |
GRCh37.p13 chr 16 | NC_000016.9:g.83157143C>A |
GRCh37.p13 chr 16 | NC_000016.9:g.83157143C>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CDH13 transcript variant 2 | NM_001220488.1:c. | N/A | Intron Variant |
CDH13 transcript variant 3 | NM_001220489.1:c. | N/A | Intron Variant |
CDH13 transcript variant 4 | NM_001220490.1:c. | N/A | Intron Variant |
CDH13 transcript variant 5 | NM_001220491.1:c. | N/A | Intron Variant |
CDH13 transcript variant 6 | NM_001220492.1:c. | N/A | Intron Variant |
CDH13 transcript variant 1 | NM_001257.4:c. | N/A | Intron Variant |
CDH13 transcript variant X1 | XM_011522804.2:c. | N/A | Intron Variant |
CDH13 transcript variant X2 | XM_017022848.1:c. | N/A | Intron Variant |
CDH13 transcript variant X3 | XM_017022849.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.664 | G=0.336 |
1000Genomes | American | Sub | 694 | C=0.440 | G=0.560 |
1000Genomes | East Asian | Sub | 1008 | C=0.570 | G=0.430 |
1000Genomes | Europe | Sub | 1006 | C=0.480 | G=0.520 |
1000Genomes | Global | Study-wide | 5008 | C=0.548 | G=0.452 |
1000Genomes | South Asian | Sub | 978 | C=0.510 | G=0.490 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.495 | G=0.505 |
The Genome Aggregation Database | African | Sub | 8692 | C=0.667 | A=0.000 |
The Genome Aggregation Database | American | Sub | 826 | C=0.380 | A=0.00, |
The Genome Aggregation Database | East Asian | Sub | 1604 | C=0.554 | A=0.000 |
The Genome Aggregation Database | Europe | Sub | 18360 | C=0.490 | A=0.000 |
The Genome Aggregation Database | Global | Study-wide | 29784 | C=0.544 | A=0.000 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.680 | A=0.00, |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.575 | G=0.424 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.477 | G=0.523 |
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 |
---|---|---|---|
rs11641255 | 4.82E-05 | alcohol consumption | 23743675 |
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 ) |
---|---|---|---|---|
chr16 | 84607 | 84774 | E068 | 37435 |
chr16 | 73067 | 73166 | E071 | 25895 |
chr16 | 73196 | 73246 | E071 | 26024 |
chr16 | 85796 | 85856 | E071 | 38624 |
chr16 | 84309 | 84529 | E074 | 37137 |
chr16 | 84607 | 84774 | E074 | 37435 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr16 | 60006 | 60628 | E067 | 12834 |
chr16 | 60006 | 60628 | E068 | 12834 |
chr16 | 60006 | 60628 | E069 | 12834 |
chr16 | 60006 | 60628 | E072 | 12834 |
chr16 | 60006 | 60628 | E073 | 12834 |
chr16 | 60006 | 60628 | E074 | 12834 |