Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 8 | NC_000008.11:g.132149077C>T |
GRCh37.p13 chr 8 | NC_000008.10:g.133161324C>T |
KCNQ3 RefSeqGene | NG_008854.2:g.336681G>A |
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 | C=0.393 | T=0.607 |
1000Genomes | American | Sub | 694 | C=0.530 | T=0.470 |
1000Genomes | East Asian | Sub | 1008 | C=0.539 | T=0.461 |
1000Genomes | Europe | Sub | 1006 | C=0.438 | T=0.562 |
1000Genomes | Global | Study-wide | 5008 | C=0.520 | T=0.480 |
1000Genomes | South Asian | Sub | 978 | C=0.750 | T=0.250 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.476 | T=0.524 |
The Genome Aggregation Database | African | Sub | 8704 | C=0.404 | T=0.596 |
The Genome Aggregation Database | American | Sub | 838 | C=0.470 | T=0.530 |
The Genome Aggregation Database | East Asian | Sub | 1616 | C=0.475 | T=0.525 |
The Genome Aggregation Database | Europe | Sub | 18458 | C=0.463 | T=0.536 |
The Genome Aggregation Database | Global | Study-wide | 29918 | C=0.448 | T=0.551 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.610 | T=0.390 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.443 | T=0.556 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.473 | T=0.527 |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1991718 | 0.000016 | alcohol craving with or without dependence | 22481050 |
rs1991718 | 0.000807 | alcohol dependence | 20201924 |
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 | -5312 |
chr8 | 133183486 | 133183561 | E067 | 22162 |
chr8 | 133204091 | 133204235 | E067 | 42767 |
chr8 | 133204247 | 133204773 | E067 | 42923 |
chr8 | 133205083 | 133205133 | E067 | 43759 |
chr8 | 133205821 | 133205927 | E067 | 44497 |
chr8 | 133206075 | 133206340 | E067 | 44751 |
chr8 | 133154941 | 133155062 | E068 | -6262 |
chr8 | 133155063 | 133156012 | E068 | -5312 |
chr8 | 133180311 | 133180351 | E068 | 18987 |
chr8 | 133180368 | 133180425 | E068 | 19044 |
chr8 | 133203957 | 133204002 | E068 | 42633 |
chr8 | 133204091 | 133204235 | E068 | 42767 |
chr8 | 133204247 | 133204773 | E068 | 42923 |
chr8 | 133204091 | 133204235 | E069 | 42767 |
chr8 | 133204247 | 133204773 | E069 | 42923 |
chr8 | 133205552 | 133205729 | E069 | 44228 |
chr8 | 133179611 | 133179671 | E070 | 18287 |
chr8 | 133179768 | 133180177 | E070 | 18444 |
chr8 | 133179611 | 133179671 | E071 | 18287 |
chr8 | 133179768 | 133180177 | E071 | 18444 |
chr8 | 133193752 | 133194010 | E071 | 32428 |
chr8 | 133204091 | 133204235 | E071 | 42767 |
chr8 | 133204247 | 133204773 | E071 | 42923 |
chr8 | 133205083 | 133205133 | E071 | 43759 |
chr8 | 133205210 | 133205437 | E071 | 43886 |
chr8 | 133205552 | 133205729 | E071 | 44228 |
chr8 | 133205821 | 133205927 | E071 | 44497 |
chr8 | 133206075 | 133206340 | E071 | 44751 |
chr8 | 133154941 | 133155062 | E072 | -6262 |
chr8 | 133205210 | 133205437 | E072 | 43886 |
chr8 | 133205552 | 133205729 | E072 | 44228 |
chr8 | 133205821 | 133205927 | E072 | 44497 |
chr8 | 133206075 | 133206340 | E072 | 44751 |
chr8 | 133154941 | 133155062 | E073 | -6262 |
chr8 | 133155063 | 133156012 | E073 | -5312 |
chr8 | 133204091 | 133204235 | E073 | 42767 |
chr8 | 133204247 | 133204773 | E073 | 42923 |
chr8 | 133179768 | 133180177 | E074 | 18444 |
chr8 | 133147688 | 133148059 | E081 | -13265 |
chr8 | 133148707 | 133148765 | E081 | -12559 |
chr8 | 133148767 | 133148822 | E081 | -12502 |
chr8 | 133178751 | 133178801 | E081 | 17427 |
chr8 | 133203957 | 133204002 | E081 | 42633 |
chr8 | 133204091 | 133204235 | E081 | 42767 |
chr8 | 133204247 | 133204773 | E081 | 42923 |
chr8 | 133205083 | 133205133 | E081 | 43759 |
chr8 | 133205210 | 133205437 | E081 | 43886 |
chr8 | 133205552 | 133205729 | E081 | 44228 |
chr8 | 133205821 | 133205927 | E081 | 44497 |
chr8 | 133206075 | 133206340 | E081 | 44751 |
chr8 | 133206491 | 133206622 | E081 | 45167 |
chr8 | 133206738 | 133206998 | E081 | 45414 |
chr8 | 133198471 | 133198521 | E082 | 37147 |
chr8 | 133205083 | 133205133 | E082 | 43759 |
chr8 | 133205210 | 133205437 | E082 | 43886 |
chr8 | 133205552 | 133205729 | E082 | 44228 |
chr8 | 133205821 | 133205927 | E082 | 44497 |
chr8 | 133206075 | 133206340 | E082 | 44751 |
chr8 | 133206491 | 133206622 | E082 | 45167 |
chr8 | 133206738 | 133206998 | E082 | 45414 |