Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 8 | NC_000008.11:g.132144220G>A |
GRCh37.p13 chr 8 | NC_000008.10:g.133156467G>A |
KCNQ3 RefSeqGene | NG_008854.2:g.341538C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
KCNQ3 transcript variant 2 | NM_001204824.1:c. | N/A | Intron Variant |
KCNQ3 transcript variant 1 | NM_004519.3:c. | N/A | Intron Variant |
KCNQ3 transcript variant X4 | XM_005250914.3:c. | N/A | Intron Variant |
KCNQ3 transcript variant X3 | XM_006716555.3:c. | N/A | Intron Variant |
KCNQ3 transcript variant X2 | XM_011517026.2:c. | N/A | Intron Variant |
KCNQ3 transcript variant X1 | XM_017013400.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.411 | A=0.589 |
1000Genomes | American | Sub | 694 | G=0.520 | A=0.480 |
1000Genomes | East Asian | Sub | 1008 | G=0.537 | A=0.463 |
1000Genomes | Europe | Sub | 1006 | G=0.452 | A=0.548 |
1000Genomes | Global | Study-wide | 5008 | G=0.526 | A=0.474 |
1000Genomes | South Asian | Sub | 978 | G=0.750 | A=0.250 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.491 | A=0.509 |
The Genome Aggregation Database | African | Sub | 8710 | G=0.426 | A=0.574 |
The Genome Aggregation Database | American | Sub | 834 | G=0.460 | A=0.540 |
The Genome Aggregation Database | East Asian | Sub | 1608 | G=0.479 | A=0.521 |
The Genome Aggregation Database | Europe | Sub | 18466 | G=0.479 | A=0.520 |
The Genome Aggregation Database | Global | Study-wide | 29920 | G=0.464 | A=0.535 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.610 | A=0.390 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.461 | A=0.538 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.490 | A=0.510 |
PMID | Title | Author | Journal |
---|---|---|---|
22481050 | Genetic influences on craving for alcohol. | Agrawal A | Addict Behav |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs2469518 | 7.06E-06 | alcohol craving with or without dependence | 22481050 |
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 ) |
---|---|---|---|---|
chr8 | 133155063 | 133156012 | E067 | -455 |
chr8 | 133183486 | 133183561 | E067 | 27019 |
chr8 | 133204091 | 133204235 | E067 | 47624 |
chr8 | 133204247 | 133204773 | E067 | 47780 |
chr8 | 133205083 | 133205133 | E067 | 48616 |
chr8 | 133205821 | 133205927 | E067 | 49354 |
chr8 | 133206075 | 133206340 | E067 | 49608 |
chr8 | 133154941 | 133155062 | E068 | -1405 |
chr8 | 133155063 | 133156012 | E068 | -455 |
chr8 | 133180311 | 133180351 | E068 | 23844 |
chr8 | 133180368 | 133180425 | E068 | 23901 |
chr8 | 133203957 | 133204002 | E068 | 47490 |
chr8 | 133204091 | 133204235 | E068 | 47624 |
chr8 | 133204247 | 133204773 | E068 | 47780 |
chr8 | 133204091 | 133204235 | E069 | 47624 |
chr8 | 133204247 | 133204773 | E069 | 47780 |
chr8 | 133205552 | 133205729 | E069 | 49085 |
chr8 | 133179611 | 133179671 | E070 | 23144 |
chr8 | 133179768 | 133180177 | E070 | 23301 |
chr8 | 133179611 | 133179671 | E071 | 23144 |
chr8 | 133179768 | 133180177 | E071 | 23301 |
chr8 | 133193752 | 133194010 | E071 | 37285 |
chr8 | 133204091 | 133204235 | E071 | 47624 |
chr8 | 133204247 | 133204773 | E071 | 47780 |
chr8 | 133205083 | 133205133 | E071 | 48616 |
chr8 | 133205210 | 133205437 | E071 | 48743 |
chr8 | 133205552 | 133205729 | E071 | 49085 |
chr8 | 133205821 | 133205927 | E071 | 49354 |
chr8 | 133206075 | 133206340 | E071 | 49608 |
chr8 | 133154941 | 133155062 | E072 | -1405 |
chr8 | 133205210 | 133205437 | E072 | 48743 |
chr8 | 133205552 | 133205729 | E072 | 49085 |
chr8 | 133205821 | 133205927 | E072 | 49354 |
chr8 | 133206075 | 133206340 | E072 | 49608 |
chr8 | 133154941 | 133155062 | E073 | -1405 |
chr8 | 133155063 | 133156012 | E073 | -455 |
chr8 | 133204091 | 133204235 | E073 | 47624 |
chr8 | 133204247 | 133204773 | E073 | 47780 |
chr8 | 133179768 | 133180177 | E074 | 23301 |
chr8 | 133147688 | 133148059 | E081 | -8408 |
chr8 | 133148707 | 133148765 | E081 | -7702 |
chr8 | 133148767 | 133148822 | E081 | -7645 |
chr8 | 133178751 | 133178801 | E081 | 22284 |
chr8 | 133203957 | 133204002 | E081 | 47490 |
chr8 | 133204091 | 133204235 | E081 | 47624 |
chr8 | 133204247 | 133204773 | E081 | 47780 |
chr8 | 133205083 | 133205133 | E081 | 48616 |
chr8 | 133205210 | 133205437 | E081 | 48743 |
chr8 | 133205552 | 133205729 | E081 | 49085 |
chr8 | 133205821 | 133205927 | E081 | 49354 |
chr8 | 133206075 | 133206340 | E081 | 49608 |
chr8 | 133198471 | 133198521 | E082 | 42004 |
chr8 | 133205083 | 133205133 | E082 | 48616 |
chr8 | 133205210 | 133205437 | E082 | 48743 |
chr8 | 133205552 | 133205729 | E082 | 49085 |
chr8 | 133205821 | 133205927 | E082 | 49354 |
chr8 | 133206075 | 133206340 | E082 | 49608 |