Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.174963457T>G |
GRCh37.p13 chr 3 | NC_000003.11:g.174681247T>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NAALADL2 transcript | NM_207015.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X12 | XM_006713560.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X1 | XM_011512612.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X2 | XM_011512613.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X15 | XM_011512615.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X19 | XM_011512617.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X3 | XM_017006070.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X4 | XM_017006071.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X5 | XM_017006072.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X6 | XM_017006073.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X7 | XM_017006074.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X8 | XM_017006075.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X9 | XM_017006076.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X10 | XM_017006077.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X11 | XM_017006078.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X13 | XM_017006079.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X14 | XM_017006080.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X16 | XM_017006081.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X17 | XM_017006082.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X18 | XM_011512616.2:c. | N/A | Genic Upstream Transcript Variant |
NAALADL2 transcript variant X20 | XM_017006083.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.638 | G=0.362 |
1000Genomes | American | Sub | 694 | T=0.600 | G=0.400 |
1000Genomes | East Asian | Sub | 1008 | T=0.862 | G=0.138 |
1000Genomes | Europe | Sub | 1006 | T=0.437 | G=0.563 |
1000Genomes | Global | Study-wide | 5008 | T=0.638 | G=0.362 |
1000Genomes | South Asian | Sub | 978 | T=0.640 | G=0.360 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.416 | G=0.584 |
The Genome Aggregation Database | African | Sub | 8708 | T=0.614 | G=0.386 |
The Genome Aggregation Database | American | Sub | 836 | T=0.680 | G=0.320 |
The Genome Aggregation Database | East Asian | Sub | 1602 | T=0.866 | G=0.134 |
The Genome Aggregation Database | Europe | Sub | 18438 | T=0.444 | G=0.555 |
The Genome Aggregation Database | Global | Study-wide | 29886 | T=0.524 | G=0.475 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.610 | G=0.390 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.543 | G=0.456 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.414 | G=0.586 |
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 |
---|---|---|---|
rs10513729 | 0.000577 | alcohol consumption (maxi-drinks) | 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 ) |
---|---|---|---|---|
chr3 | 174676783 | 174677052 | E068 | -4195 |
chr3 | 174677188 | 174677390 | E068 | -3857 |
chr3 | 174674838 | 174675167 | E071 | -6080 |
chr3 | 174675273 | 174675343 | E071 | -5904 |
chr3 | 174675388 | 174675957 | E071 | -5290 |
chr3 | 174676264 | 174676768 | E071 | -4479 |
chr3 | 174676783 | 174677052 | E071 | -4195 |
chr3 | 174677188 | 174677390 | E071 | -3857 |
chr3 | 174677188 | 174677390 | E072 | -3857 |
chr3 | 174674838 | 174675167 | E074 | -6080 |
chr3 | 174675273 | 174675343 | E074 | -5904 |
chr3 | 174675388 | 174675957 | E074 | -5290 |
chr3 | 174677188 | 174677390 | E081 | -3857 |