Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.175161068G>A |
GRCh37.p13 chr 1 | NC_000001.10:g.175130204G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
KIAA0040 transcript variant 2 | NM_014656.2:c. | N/A | 5 Prime UTR Variant |
KIAA0040 transcript variant 1 | NM_001162893.1:c. | N/A | 5 Prime UTR Variant |
KIAA0040 transcript variant 3 | NM_001162894.1:c. | N/A | 5 Prime UTR Variant |
KIAA0040 transcript variant 4 | NM_001162895.1:c. | N/A | 5 Prime UTR Variant |
KIAA0040 transcript variant 6 | NM_001319231.1:c. | N/A | 5 Prime UTR Variant |
KIAA0040 transcript variant 5 | NM_001319230.1:c. | N/A | 5 Prime UTR Variant |
KIAA0040 transcript variant X1 | XM_017002909.1:c. | N/A | 5 Prime UTR Variant |
KIAA0040 transcript variant X2 | XM_017002910.1:c. | N/A | 5 Prime UTR Variant |
KIAA0040 transcript variant X3 | XM_017002911.1:c. | N/A | 5 Prime UTR Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.625 | A=0.375 |
1000Genomes | American | Sub | 694 | G=0.680 | A=0.320 |
1000Genomes | East Asian | Sub | 1008 | G=0.856 | A=0.144 |
1000Genomes | Europe | Sub | 1006 | G=0.561 | A=0.439 |
1000Genomes | Global | Study-wide | 5008 | G=0.685 | A=0.315 |
1000Genomes | South Asian | Sub | 978 | G=0.720 | A=0.280 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.536 | A=0.464 |
The Genome Aggregation Database | African | Sub | 8702 | G=0.602 | A=0.398 |
The Genome Aggregation Database | American | Sub | 836 | G=0.710 | A=0.290 |
The Genome Aggregation Database | East Asian | Sub | 1622 | G=0.871 | A=0.129 |
The Genome Aggregation Database | Europe | Sub | 18448 | G=0.536 | A=0.464 |
The Genome Aggregation Database | Global | Study-wide | 29910 | G=0.580 | A=0.419 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.730 | A=0.270 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.605 | A=0.394 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.522 | A=0.478 |
PMID | Title | Author | Journal |
---|---|---|---|
21703634 | A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. | Wang KS | J Psychiatr Res |
21956439 | Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. | Zuo L | Neuropsychopharmacology |
23365539 | Large scale association analysis for drug addiction: results from SNP to gene. | Guo X | ScientificWorldJournal |
20202923 | A genome-wide association study of alcohol dependence. | Bierut LJ | Proc Natl Acad Sci U S A |
22488850 | Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. | Zuo L | Am J Med Genet B Neuropsychiatr Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1057239 | 0.0000012 | alcohol and nictotine co-dependence | 22488850 |
rs1057239 | 0.00000193 | alcohol dependence | 21703634 |
rs1057239 | 0.00000201 | alcohol dependence | 20202923 |
rs1057239 | 0.00031 | alcohol dependence | 21956439 |
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 ) |
---|---|---|---|---|
chr1 | 175127262 | 175127638 | E067 | -2566 |
chr1 | 175127726 | 175127793 | E067 | -2411 |
chr1 | 175121212 | 175121706 | E069 | -8498 |
chr1 | 175138495 | 175138718 | E069 | 8291 |
chr1 | 175117508 | 175117593 | E070 | -12611 |
chr1 | 175131566 | 175131616 | E070 | 1362 |
chr1 | 175131702 | 175131793 | E070 | 1498 |
chr1 | 175131845 | 175132044 | E070 | 1641 |
chr1 | 175132208 | 175132358 | E070 | 2004 |
chr1 | 175169465 | 175169525 | E071 | 39261 |
chr1 | 175169774 | 175170871 | E071 | 39570 |
chr1 | 175121212 | 175121706 | E072 | -8498 |
chr1 | 175173548 | 175173704 | E073 | 43344 |
chr1 | 175173714 | 175173889 | E073 | 43510 |
chr1 | 175115170 | 175115364 | E081 | -14840 |
chr1 | 175115429 | 175115500 | E081 | -14704 |
chr1 | 175115737 | 175116333 | E081 | -13871 |
chr1 | 175116438 | 175116534 | E081 | -13670 |
chr1 | 175116763 | 175117071 | E081 | -13133 |
chr1 | 175117325 | 175117401 | E081 | -12803 |
chr1 | 175117508 | 175117593 | E081 | -12611 |
chr1 | 175120951 | 175121040 | E081 | -9164 |
chr1 | 175121212 | 175121706 | E081 | -8498 |
chr1 | 175127262 | 175127638 | E082 | -2566 |
chr1 | 175127726 | 175127793 | E082 | -2411 |
chr1 | 175173548 | 175173704 | E082 | 43344 |
chr1 | 175173714 | 175173889 | E082 | 43510 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr1 | 175160861 | 175163201 | E067 | 30657 |
chr1 | 175160861 | 175163201 | E068 | 30657 |
chr1 | 175160861 | 175163201 | E069 | 30657 |
chr1 | 175160861 | 175163201 | E071 | 30657 |
chr1 | 175160861 | 175163201 | E072 | 30657 |
chr1 | 175160861 | 175163201 | E073 | 30657 |
chr1 | 175160861 | 175163201 | E074 | 30657 |
chr1 | 175160861 | 175163201 | E082 | 30657 |