Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 16 | NC_000016.10:g.16076758G>T |
GRCh37.p13 chr 16 | NC_000016.9:g.16170615G>T |
ABCC1 RefSeqGene | NG_028268.1:g.132182G>T |
GRCh38.p7 chr 16 alt locus HSCHR16_1_CTG1 | NT_187607.1:g.1734610T>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ABCC1 transcript | NM_004996.3:c. | N/A | Intron Variant |
ABCC1 transcript variant X2 | XM_011522497.1:c. | N/A | Intron Variant |
ABCC1 transcript variant X5 | XM_011522498.2:c. | N/A | Intron Variant |
ABCC1 transcript variant X1 | XM_017023237.1:c. | N/A | Intron Variant |
ABCC1 transcript variant X3 | XM_017023238.1:c. | N/A | Intron Variant |
ABCC1 transcript variant X4 | XM_017023239.1:c. | N/A | Intron Variant |
ABCC1 transcript variant X6 | XM_017023240.1:c. | N/A | Intron Variant |
ABCC1 transcript variant X7 | XM_017023241.1:c. | N/A | Intron Variant |
ABCC1 transcript variant X8 | XM_017023242.1:c. | N/A | Intron Variant |
ABCC1 transcript variant X9 | XM_017023243.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.352 | T=0.648 |
1000Genomes | American | Sub | 694 | G=0.710 | T=0.290 |
1000Genomes | East Asian | Sub | 1008 | G=0.637 | T=0.363 |
1000Genomes | Europe | Sub | 1006 | G=0.687 | T=0.313 |
1000Genomes | Global | Study-wide | 5008 | G=0.582 | T=0.418 |
1000Genomes | South Asian | Sub | 978 | G=0.630 | T=0.370 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.701 | T=0.299 |
The Genome Aggregation Database | African | Sub | 8678 | G=0.399 | T=0.601 |
The Genome Aggregation Database | American | Sub | 836 | G=0.720 | T=0.280 |
The Genome Aggregation Database | East Asian | Sub | 1618 | G=0.642 | T=0.358 |
The Genome Aggregation Database | Europe | Sub | 18454 | G=0.693 | T=0.306 |
The Genome Aggregation Database | Global | Study-wide | 29888 | G=0.605 | T=0.394 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.660 | T=0.340 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.552 | T=0.448 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.677 | T=0.323 |
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 |
---|---|---|---|
rs35626 | 0.000826 | alcohol consumption (maxi-drinks) | 24277619 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr16:16170615 | MPV17L | ENSG00000156968.8 | G>T | 2.4093e-2 | 681004 | Frontal_Cortex_BA9 |
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 | 16186734 | 16186803 | E070 | 16119 |
chr16 | 16186976 | 16187053 | E070 | 16361 |
chr16 | 16187054 | 16187830 | E070 | 16439 |
chr16 | 16165506 | 16166035 | E071 | -4580 |
chr16 | 16213592 | 16213698 | E071 | 42977 |
chr16 | 16130151 | 16130749 | E072 | -39866 |
chr16 | 16189814 | 16189922 | E074 | 19199 |
chr16 | 16189965 | 16190005 | E074 | 19350 |
chr16 | 16190085 | 16190854 | E074 | 19470 |
chr16 | 16135210 | 16135746 | E081 | -34869 |
chr16 | 16135888 | 16136323 | E081 | -34292 |
chr16 | 16136490 | 16136544 | E081 | -34071 |
chr16 | 16136595 | 16136645 | E081 | -33970 |
chr16 | 16136722 | 16136776 | E081 | -33839 |
chr16 | 16135005 | 16135201 | E082 | -35414 |
chr16 | 16135210 | 16135746 | E082 | -34869 |