Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 15 | NC_000015.10:g.94320608T>G |
GRCh37.p13 chr 15 | NC_000015.9:g.94863837T>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
MCTP2 transcript variant 2 | NM_001159643.1:c. | N/A | Intron Variant |
MCTP2 transcript variant 1 | NM_018349.3:c. | N/A | Intron Variant |
MCTP2 transcript variant 3 | NM_001159644.1:c. | N/A | Genic Upstream Transcript Variant |
MCTP2 transcript variant X4 | XM_005254955.3:c. | N/A | Intron Variant |
MCTP2 transcript variant X5 | XM_006720603.2:c. | N/A | Intron Variant |
MCTP2 transcript variant X3 | XM_011521770.1:c. | N/A | Intron Variant |
MCTP2 transcript variant X6 | XM_011521771.2:c. | N/A | Intron Variant |
MCTP2 transcript variant X7 | XM_011521772.2:c. | N/A | Intron Variant |
MCTP2 transcript variant X8 | XM_011521773.2:c. | N/A | Intron Variant |
MCTP2 transcript variant X11 | XM_011521774.2:c. | N/A | Intron Variant |
MCTP2 transcript variant X1 | XM_017022403.1:c. | N/A | Intron Variant |
MCTP2 transcript variant X9 | XM_017022404.1:c. | N/A | Intron Variant |
MCTP2 transcript variant X10 | XM_017022405.1:c. | N/A | Intron Variant |
MCTP2 transcript variant X15 | XM_005254960.2:c. | N/A | Genic Upstream Transcript Variant |
MCTP2 transcript variant X14 | XM_011521775.2:c. | N/A | Genic Upstream Transcript Variant |
MCTP2 transcript variant X12 | XR_001751349.1:n. | N/A | Intron Variant |
MCTP2 transcript variant X2 | XR_931865.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.110 | G=0.890 |
1000Genomes | American | Sub | 694 | T=0.130 | G=0.870 |
1000Genomes | East Asian | Sub | 1008 | T=0.057 | G=0.943 |
1000Genomes | Europe | Sub | 1006 | T=0.185 | G=0.815 |
1000Genomes | Global | Study-wide | 5008 | T=0.125 | G=0.875 |
1000Genomes | South Asian | Sub | 978 | T=0.150 | G=0.850 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.178 | G=0.822 |
The Genome Aggregation Database | African | Sub | 8726 | T=0.111 | G=0.889 |
The Genome Aggregation Database | American | Sub | 834 | T=0.110 | G=0.890 |
The Genome Aggregation Database | East Asian | Sub | 1618 | T=0.067 | G=0.933 |
The Genome Aggregation Database | Europe | Sub | 18478 | T=0.185 | G=0.814 |
The Genome Aggregation Database | Global | Study-wide | 29958 | T=0.154 | G=0.845 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.100 | G=0.900 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.142 | G=0.857 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.186 | G=0.814 |
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 |
---|---|---|---|
rs4328383 | 0.000729 | 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 ) |
---|---|---|---|---|
chr15 | 94909453 | 94909569 | E070 | 45616 |
chr15 | 94910092 | 94910315 | E070 | 46255 |
chr15 | 94910543 | 94910603 | E070 | 46706 |
chr15 | 94910737 | 94910827 | E070 | 46900 |
chr15 | 94910849 | 94911548 | E070 | 47012 |
chr15 | 94911954 | 94912004 | E070 | 48117 |
chr15 | 94912086 | 94912255 | E070 | 48249 |
chr15 | 94912621 | 94912676 | E070 | 48784 |
chr15 | 94912691 | 94912751 | E070 | 48854 |
chr15 | 94912854 | 94912935 | E070 | 49017 |
chr15 | 94913241 | 94913384 | E070 | 49404 |
chr15 | 94867183 | 94867882 | E072 | 3346 |
chr15 | 94910092 | 94910315 | E081 | 46255 |
chr15 | 94910543 | 94910603 | E081 | 46706 |
chr15 | 94910737 | 94910827 | E081 | 46900 |
chr15 | 94857165 | 94857385 | E082 | -6452 |
chr15 | 94910092 | 94910315 | E082 | 46255 |
chr15 | 94910543 | 94910603 | E082 | 46706 |
chr15 | 94910737 | 94910827 | E082 | 46900 |
chr15 | 94910849 | 94911548 | E082 | 47012 |