Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.29440555C>T |
GRCh37.p13 chr 3 | NC_000003.11:g.29482046C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
RBMS3 transcript variant 3 | NM_001003792.2:c. | N/A | Intron Variant |
RBMS3 transcript variant 1 | NM_001003793.2:c. | N/A | Intron Variant |
RBMS3 transcript variant 5 | NM_001177711.1:c. | N/A | Intron Variant |
RBMS3 transcript variant 4 | NM_001177712.1:c. | N/A | Intron Variant |
RBMS3 transcript variant 2 | NM_014483.3:c. | N/A | Intron Variant |
RBMS3 transcript variant X1 | XM_005265060.2:c. | N/A | Intron Variant |
RBMS3 transcript variant X5 | XM_005265061.2:c. | N/A | Intron Variant |
RBMS3 transcript variant X6 | XM_005265062.1:c. | N/A | Intron Variant |
RBMS3 transcript variant X3 | XM_017006178.1:c. | N/A | Intron Variant |
RBMS3 transcript variant X4 | XM_017006179.1:c. | N/A | Intron Variant |
RBMS3 transcript variant X7 | XM_017006180.1:c. | N/A | Intron Variant |
RBMS3 transcript variant X8 | XM_017006181.1:c. | N/A | Intron Variant |
RBMS3 transcript variant X9 | XM_017006182.1:c. | N/A | Intron Variant |
RBMS3 transcript variant X9 | XM_005265063.1:c. | N/A | Genic Upstream Transcript Variant |
RBMS3 transcript variant X10 | XM_005265065.4:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.373 | T=0.627 |
1000Genomes | American | Sub | 694 | C=0.530 | T=0.470 |
1000Genomes | East Asian | Sub | 1008 | C=0.678 | T=0.322 |
1000Genomes | Europe | Sub | 1006 | C=0.813 | T=0.187 |
1000Genomes | Global | Study-wide | 5008 | C=0.615 | T=0.385 |
1000Genomes | South Asian | Sub | 978 | C=0.730 | T=0.270 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.809 | T=0.191 |
The Genome Aggregation Database | African | Sub | 8708 | C=0.425 | T=0.575 |
The Genome Aggregation Database | American | Sub | 836 | C=0.630 | T=0.370 |
The Genome Aggregation Database | East Asian | Sub | 1612 | C=0.697 | T=0.303 |
The Genome Aggregation Database | Europe | Sub | 18484 | C=0.842 | T=0.157 |
The Genome Aggregation Database | Global | Study-wide | 29942 | C=0.706 | T=0.293 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.760 | T=0.240 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.613 | T=0.387 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.815 | T=0.185 |
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 |
---|---|---|---|
rs1438339 | 0.000556 | 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 ) |
---|---|---|---|---|
chr3 | 29494547 | 29496462 | E067 | 12501 |
chr3 | 29494547 | 29496462 | E069 | 12501 |
chr3 | 29451802 | 29452066 | E070 | -29980 |
chr3 | 29470818 | 29470944 | E070 | -11102 |
chr3 | 29494547 | 29496462 | E070 | 12501 |
chr3 | 29516289 | 29516359 | E070 | 34243 |
chr3 | 29516494 | 29516594 | E070 | 34448 |
chr3 | 29516959 | 29517118 | E070 | 34913 |
chr3 | 29517409 | 29517655 | E070 | 35363 |
chr3 | 29489724 | 29489918 | E071 | 7678 |
chr3 | 29489724 | 29489918 | E072 | 7678 |
chr3 | 29494547 | 29496462 | E072 | 12501 |
chr3 | 29496547 | 29496650 | E072 | 14501 |
chr3 | 29494547 | 29496462 | E073 | 12501 |
chr3 | 29489724 | 29489918 | E074 | 7678 |
chr3 | 29507719 | 29508239 | E074 | 25673 |
chr3 | 29467946 | 29468023 | E081 | -14023 |
chr3 | 29468176 | 29468229 | E081 | -13817 |
chr3 | 29468296 | 29468401 | E081 | -13645 |
chr3 | 29469194 | 29469749 | E081 | -12297 |
chr3 | 29470818 | 29470944 | E081 | -11102 |
chr3 | 29494547 | 29496462 | E082 | 12501 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr3 | 29481792 | 29482729 | E067 | 0 |
chr3 | 29481792 | 29482729 | E068 | 0 |
chr3 | 29481792 | 29482729 | E069 | 0 |
chr3 | 29481792 | 29482729 | E071 | 0 |
chr3 | 29481792 | 29482729 | E074 | 0 |