Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 10 | NC_000010.11:g.18348303A>C |
GRCh37.p13 chr 10 | NC_000010.10:g.18637232A>C |
CACNB2 RefSeqGene | NG_016195.1:g.212627A>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CACNB2 transcript variant 1 | NM_000724.3:c. | N/A | Intron Variant |
CACNB2 transcript variant 9 | NM_001167945.1:c. | N/A | Intron Variant |
CACNB2 transcript variant 6 | NM_201571.3:c. | N/A | Intron Variant |
CACNB2 transcript variant 8 | NM_201572.3:c. | N/A | Intron Variant |
CACNB2 transcript variant 3 | NM_201590.2:c. | N/A | Intron Variant |
CACNB2 transcript variant 5 | NM_201593.2:c. | N/A | Intron Variant |
CACNB2 transcript variant 2 | NM_201596.2:c. | N/A | Intron Variant |
CACNB2 transcript variant 4 | NM_201597.2:c. | N/A | Intron Variant |
CACNB2 transcript variant 7 | NM_201570.2:c. | N/A | Genic Upstream Transcript Variant |
CACNB2 transcript variant X2 | XM_011519659.2:c. | N/A | Intron Variant |
CACNB2 transcript variant X4 | XM_011519660.2:c. | N/A | Intron Variant |
CACNB2 transcript variant X3 | XM_005252588.3:c. | N/A | Genic Upstream Transcript Variant |
CACNB2 transcript variant X5 | XM_005252591.3:c. | N/A | Genic Upstream Transcript Variant |
CACNB2 transcript variant X1 | XM_006717502.3:c. | N/A | Genic Upstream Transcript Variant |
CACNB2 transcript variant X4 | XM_017016625.1:c. | N/A | Genic Upstream Transcript Variant |
CACNB2 transcript variant X6 | XR_001747198.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.874 | C=0.126 |
1000Genomes | American | Sub | 694 | A=0.820 | C=0.180 |
1000Genomes | East Asian | Sub | 1008 | A=0.961 | C=0.039 |
1000Genomes | Europe | Sub | 1006 | A=0.878 | C=0.122 |
1000Genomes | Global | Study-wide | 5008 | A=0.893 | C=0.107 |
1000Genomes | South Asian | Sub | 978 | A=0.920 | C=0.080 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.878 | C=0.122 |
The Genome Aggregation Database | African | Sub | 8718 | A=0.871 | C=0.129 |
The Genome Aggregation Database | American | Sub | 838 | A=0.780 | C=0.220 |
The Genome Aggregation Database | East Asian | Sub | 1620 | A=0.966 | C=0.034 |
The Genome Aggregation Database | Europe | Sub | 18500 | A=0.880 | C=0.119 |
The Genome Aggregation Database | Global | Study-wide | 29978 | A=0.880 | C=0.119 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.930 | C=0.070 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.869 | C=0.130 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.867 | C=0.133 |
PMID | Title | Author | Journal |
---|---|---|---|
20158304 | A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. | Lind PA | Twin Res Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs12240995 | 1.33E-05 | alcohol and nictotine co-dependence | 20158304 |
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 ) |
---|---|---|---|---|
chr10 | 18592367 | 18592507 | E068 | -44725 |
chr10 | 18592983 | 18593043 | E068 | -44189 |
chr10 | 18621323 | 18621721 | E068 | -15511 |
chr10 | 18622208 | 18622331 | E068 | -14901 |
chr10 | 18640386 | 18641793 | E068 | 3154 |
chr10 | 18683376 | 18683426 | E068 | 46144 |
chr10 | 18683513 | 18683567 | E068 | 46281 |
chr10 | 18683843 | 18683900 | E068 | 46611 |
chr10 | 18595087 | 18595216 | E069 | -42016 |
chr10 | 18639373 | 18639454 | E070 | 2141 |
chr10 | 18639457 | 18639914 | E070 | 2225 |
chr10 | 18639373 | 18639454 | E072 | 2141 |
chr10 | 18639457 | 18639914 | E072 | 2225 |
chr10 | 18597286 | 18597399 | E081 | -39833 |
chr10 | 18598174 | 18598281 | E081 | -38951 |
chr10 | 18598284 | 18598342 | E081 | -38890 |
chr10 | 18628793 | 18628843 | E081 | -8389 |
chr10 | 18628919 | 18629064 | E081 | -8168 |
chr10 | 18639236 | 18639295 | E082 | 2004 |
chr10 | 18639373 | 18639454 | E082 | 2141 |
chr10 | 18639457 | 18639914 | E082 | 2225 |
chr10 | 18640061 | 18640164 | E082 | 2829 |
chr10 | 18640243 | 18640314 | E082 | 3011 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr10 | 18629331 | 18630268 | E067 | -6964 |
chr10 | 18629331 | 18630268 | E068 | -6964 |
chr10 | 18629331 | 18630268 | E069 | -6964 |
chr10 | 18630289 | 18630474 | E069 | -6758 |
chr10 | 18629331 | 18630268 | E071 | -6964 |
chr10 | 18629331 | 18630268 | E072 | -6964 |
chr10 | 18630289 | 18630474 | E072 | -6758 |
chr10 | 18629331 | 18630268 | E073 | -6964 |
chr10 | 18630289 | 18630474 | E073 | -6758 |
chr10 | 18629331 | 18630268 | E082 | -6964 |