Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.175157287A>G |
GRCh37.p13 chr 1 | NC_000001.10:g.175126423A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
KIAA0040 transcript variant 2 | NM_014656.2:c. | N/A | 3 Prime UTR Variant |
KIAA0040 transcript variant 1 | NM_001162893.1:c. | N/A | 3 Prime UTR Variant |
KIAA0040 transcript variant 3 | NM_001162894.1:c. | N/A | 3 Prime UTR Variant |
KIAA0040 transcript variant 4 | NM_001162895.1:c. | N/A | 3 Prime UTR Variant |
KIAA0040 transcript variant 6 | NM_001319231.1:c. | N/A | 3 Prime UTR Variant |
KIAA0040 transcript variant 5 | NM_001319230.1:c. | N/A | 3 Prime UTR Variant |
KIAA0040 transcript variant X1 | XM_017002909.1:c. | N/A | 3 Prime UTR Variant |
KIAA0040 transcript variant X2 | XM_017002910.1:c. | N/A | 3 Prime UTR Variant |
KIAA0040 transcript variant X3 | XM_017002911.1:c. | N/A | 3 Prime UTR Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.746 | G=0.254 |
1000Genomes | American | Sub | 694 | A=0.700 | G=0.300 |
1000Genomes | East Asian | Sub | 1008 | A=0.899 | G=0.101 |
1000Genomes | Europe | Sub | 1006 | A=0.554 | G=0.446 |
1000Genomes | Global | Study-wide | 5008 | A=0.731 | G=0.269 |
1000Genomes | South Asian | Sub | 978 | A=0.740 | G=0.260 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.537 | G=0.463 |
The Genome Aggregation Database | African | Sub | 8700 | A=0.718 | G=0.282 |
The Genome Aggregation Database | American | Sub | 834 | A=0.740 | G=0.260 |
The Genome Aggregation Database | East Asian | Sub | 1618 | A=0.891 | G=0.109 |
The Genome Aggregation Database | Europe | Sub | 18474 | A=0.526 | G=0.473 |
The Genome Aggregation Database | Global | Study-wide | 29926 | A=0.609 | G=0.390 |
The Genome Aggregation Database | Other | Sub | 300 | A=0.700 | G=0.300 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.660 | G=0.339 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.515 | G=0.485 |
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 |
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 |
21956439 | Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. | Zuo L | Neuropsychopharmacology |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1057302 | 0.000000512 | alcohol dependence | 21703634 |
rs1057302 | 0.00000194 | alcohol dependence | 20202923 |
rs1057302 | 0.00062 | 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 | 839 |
chr1 | 175127726 | 175127793 | E067 | 1303 |
chr1 | 175121212 | 175121706 | E069 | -4717 |
chr1 | 175138495 | 175138718 | E069 | 12072 |
chr1 | 175117508 | 175117593 | E070 | -8830 |
chr1 | 175131566 | 175131616 | E070 | 5143 |
chr1 | 175131702 | 175131793 | E070 | 5279 |
chr1 | 175131845 | 175132044 | E070 | 5422 |
chr1 | 175132208 | 175132358 | E070 | 5785 |
chr1 | 175169465 | 175169525 | E071 | 43042 |
chr1 | 175169774 | 175170871 | E071 | 43351 |
chr1 | 175121212 | 175121706 | E072 | -4717 |
chr1 | 175173548 | 175173704 | E073 | 47125 |
chr1 | 175173714 | 175173889 | E073 | 47291 |
chr1 | 175115170 | 175115364 | E081 | -11059 |
chr1 | 175115429 | 175115500 | E081 | -10923 |
chr1 | 175115737 | 175116333 | E081 | -10090 |
chr1 | 175116438 | 175116534 | E081 | -9889 |
chr1 | 175116763 | 175117071 | E081 | -9352 |
chr1 | 175117325 | 175117401 | E081 | -9022 |
chr1 | 175117508 | 175117593 | E081 | -8830 |
chr1 | 175120951 | 175121040 | E081 | -5383 |
chr1 | 175121212 | 175121706 | E081 | -4717 |
chr1 | 175127262 | 175127638 | E082 | 839 |
chr1 | 175127726 | 175127793 | E082 | 1303 |
chr1 | 175173548 | 175173704 | E082 | 47125 |
chr1 | 175173714 | 175173889 | E082 | 47291 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr1 | 175160861 | 175163201 | E067 | 34438 |
chr1 | 175160861 | 175163201 | E068 | 34438 |
chr1 | 175160861 | 175163201 | E069 | 34438 |
chr1 | 175160861 | 175163201 | E071 | 34438 |
chr1 | 175160861 | 175163201 | E072 | 34438 |
chr1 | 175160861 | 175163201 | E073 | 34438 |
chr1 | 175160861 | 175163201 | E074 | 34438 |
chr1 | 175160861 | 175163201 | E082 | 34438 |