Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.53596652C>T |
GRCh37.p13 chr 3 | NC_000003.11:g.53630679C>T |
CACNA1D RefSeqGene | NG_032999.1:g.106604C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CACNA1D transcript variant 1 | NM_000720.3:c. | N/A | Intron Variant |
CACNA1D transcript variant 3 | NM_001128839.2:c. | N/A | Intron Variant |
CACNA1D transcript variant 2 | NM_001128840.2:c. | N/A | Intron Variant |
CACNA1D transcript variant X12 | XM_005265448.3:c. | N/A | Intron Variant |
CACNA1D transcript variant X2 | XM_011534094.2:c. | N/A | Intron Variant |
CACNA1D transcript variant X11 | XM_011534096.2:c. | N/A | Intron Variant |
CACNA1D transcript variant X13 | XM_011534097.2:c. | N/A | Intron Variant |
CACNA1D transcript variant X15 | XM_011534100.2:c. | N/A | Intron Variant |
CACNA1D transcript variant X1 | XM_017007137.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X3 | XM_017007138.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X4 | XM_017007139.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X5 | XM_017007140.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X6 | XM_017007141.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X7 | XM_017007142.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X8 | XM_017007143.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X9 | XM_017007144.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X10 | XM_017007145.1:c. | N/A | Intron Variant |
CACNA1D transcript variant X14 | XM_011534099.2:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.613 | T=0.387 |
1000Genomes | American | Sub | 694 | C=0.800 | T=0.200 |
1000Genomes | East Asian | Sub | 1008 | C=0.723 | T=0.277 |
1000Genomes | Europe | Sub | 1006 | C=0.864 | T=0.136 |
1000Genomes | Global | Study-wide | 5008 | C=0.736 | T=0.264 |
1000Genomes | South Asian | Sub | 978 | C=0.740 | T=0.260 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.862 | T=0.138 |
The Genome Aggregation Database | African | Sub | 8692 | C=0.635 | T=0.365 |
The Genome Aggregation Database | American | Sub | 834 | C=0.740 | T=0.260 |
The Genome Aggregation Database | East Asian | Sub | 1614 | C=0.741 | T=0.259 |
The Genome Aggregation Database | Europe | Sub | 18482 | C=0.868 | T=0.131 |
The Genome Aggregation Database | Global | Study-wide | 29924 | C=0.790 | T=0.209 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.900 | T=0.100 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.762 | T=0.238 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.871 | T=0.129 |
PMID | Title | Author | Journal |
---|---|---|---|
19268276 | Genome-wide association study of smoking initiation and current smoking. | Vink JM | Am J Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs6445588 | 0.000326 | Nicotine dependence (smoking) | 19268276 |
rs6445588 | 0.000881 | Nicotine initiation (smoking) | 19268276 |
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 ) |
---|---|---|---|---|
chr3 | 53651715 | 53651802 | E067 | 21036 |
chr3 | 53584179 | 53584278 | E068 | -46401 |
chr3 | 53584389 | 53584632 | E068 | -46047 |
chr3 | 53583394 | 53583509 | E070 | -47170 |
chr3 | 53650328 | 53650855 | E070 | 19649 |
chr3 | 53658032 | 53658095 | E070 | 27353 |
chr3 | 53659978 | 53660120 | E070 | 29299 |
chr3 | 53662673 | 53662830 | E070 | 31994 |
chr3 | 53663060 | 53663145 | E070 | 32381 |
chr3 | 53663300 | 53663433 | E070 | 32621 |
chr3 | 53663467 | 53663552 | E070 | 32788 |
chr3 | 53619213 | 53619373 | E071 | -11306 |
chr3 | 53619566 | 53619790 | E071 | -10889 |
chr3 | 53649693 | 53649933 | E071 | 19014 |
chr3 | 53651715 | 53651802 | E071 | 21036 |
chr3 | 53652286 | 53652368 | E071 | 21607 |
chr3 | 53584179 | 53584278 | E072 | -46401 |
chr3 | 53650328 | 53650855 | E072 | 19649 |
chr3 | 53652286 | 53652368 | E072 | 21607 |
chr3 | 53584179 | 53584278 | E073 | -46401 |
chr3 | 53584389 | 53584632 | E073 | -46047 |
chr3 | 53584179 | 53584278 | E074 | -46401 |
chr3 | 53584389 | 53584632 | E074 | -46047 |
chr3 | 53619213 | 53619373 | E074 | -11306 |
chr3 | 53587207 | 53587339 | E081 | -43340 |
chr3 | 53587367 | 53587445 | E081 | -43234 |
chr3 | 53650137 | 53650187 | E081 | 19458 |
chr3 | 53650328 | 53650855 | E081 | 19649 |
chr3 | 53662673 | 53662830 | E081 | 31994 |
chr3 | 53663060 | 53663145 | E081 | 32381 |
chr3 | 53663300 | 53663433 | E081 | 32621 |
chr3 | 53663467 | 53663552 | E081 | 32788 |
chr3 | 53587207 | 53587339 | E082 | -43340 |
chr3 | 53587367 | 53587445 | E082 | -43234 |
chr3 | 53587634 | 53587752 | E082 | -42927 |