Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 6 | NC_000006.12:g.20652534A>G |
GRCh37.p13 chr 6 | NC_000006.11:g.20652765A>G |
CDKAL1 RefSeqGene | NG_021195.1:g.123078A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CDKAL1 transcript | NM_017774.3:c. | N/A | Intron Variant |
CDKAL1 transcript variant X7 | XM_011514718.1:c. | N/A | Intron Variant |
CDKAL1 transcript variant X8 | XM_011514719.2:c. | N/A | Intron Variant |
CDKAL1 transcript variant X9 | XM_017010986.1:c. | N/A | Intron Variant |
CDKAL1 transcript variant X12 | XM_017010987.1:c. | N/A | Intron Variant |
CDKAL1 transcript variant X3 | XR_001743495.1:n. | N/A | Intron Variant |
CDKAL1 transcript variant X4 | XR_001743496.1:n. | N/A | Intron Variant |
CDKAL1 transcript variant X13 | XR_001743500.1:n. | N/A | Intron Variant |
CDKAL1 transcript variant X14 | XR_001743501.1:n. | N/A | Intron Variant |
CDKAL1 transcript variant X1 | XR_926265.1:n. | N/A | Intron Variant |
CDKAL1 transcript variant X2 | XR_926266.1:n. | N/A | Intron Variant |
CDKAL1 transcript variant X5 | XR_926267.1:n. | N/A | Intron Variant |
CDKAL1 transcript variant X9 | XR_001743498.1:n. | N/A | Genic Upstream Transcript Variant |
CDKAL1 transcript variant X10 | XR_001743499.1:n. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.579 | G=0.421 |
1000Genomes | American | Sub | 694 | A=0.780 | G=0.220 |
1000Genomes | East Asian | Sub | 1008 | A=0.605 | G=0.395 |
1000Genomes | Europe | Sub | 1006 | A=0.837 | G=0.163 |
1000Genomes | Global | Study-wide | 5008 | A=0.697 | G=0.303 |
1000Genomes | South Asian | Sub | 978 | A=0.750 | G=0.250 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.829 | G=0.171 |
The Genome Aggregation Database | African | Sub | 8704 | A=0.615 | G=0.385 |
The Genome Aggregation Database | American | Sub | 838 | A=0.810 | G=0.190 |
The Genome Aggregation Database | East Asian | Sub | 1612 | A=0.628 | G=0.372 |
The Genome Aggregation Database | Europe | Sub | 18472 | A=0.828 | G=0.171 |
The Genome Aggregation Database | Global | Study-wide | 29928 | A=0.754 | G=0.245 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.810 | G=0.190 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.721 | G=0.278 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.827 | G=0.173 |
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 |
---|---|---|---|
rs9295475 | 6.28E-05 | nicotine 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 ) |
---|---|---|---|---|
chr6 | 20680860 | 20681578 | E067 | 28095 |
chr6 | 20681624 | 20681741 | E067 | 28859 |
chr6 | 20681800 | 20681865 | E067 | 29035 |
chr6 | 20660800 | 20661246 | E068 | 8035 |
chr6 | 20661552 | 20661865 | E068 | 8787 |
chr6 | 20661923 | 20662361 | E068 | 9158 |
chr6 | 20680860 | 20681578 | E068 | 28095 |
chr6 | 20681624 | 20681741 | E068 | 28859 |
chr6 | 20681800 | 20681865 | E068 | 29035 |
chr6 | 20640142 | 20641070 | E069 | -11695 |
chr6 | 20661552 | 20661865 | E069 | 8787 |
chr6 | 20661923 | 20662361 | E069 | 9158 |
chr6 | 20661923 | 20662361 | E070 | 9158 |
chr6 | 20605934 | 20606146 | E071 | -46619 |
chr6 | 20661552 | 20661865 | E071 | 8787 |
chr6 | 20661923 | 20662361 | E071 | 9158 |
chr6 | 20660800 | 20661246 | E072 | 8035 |
chr6 | 20661552 | 20661865 | E072 | 8787 |
chr6 | 20661923 | 20662361 | E072 | 9158 |
chr6 | 20680860 | 20681578 | E072 | 28095 |
chr6 | 20681624 | 20681741 | E072 | 28859 |
chr6 | 20681800 | 20681865 | E072 | 29035 |
chr6 | 20661923 | 20662361 | E073 | 9158 |
chr6 | 20640142 | 20641070 | E074 | -11695 |
chr6 | 20657467 | 20657847 | E074 | 4702 |
chr6 | 20661552 | 20661865 | E074 | 8787 |
chr6 | 20661923 | 20662361 | E074 | 9158 |
chr6 | 20680860 | 20681578 | E074 | 28095 |
chr6 | 20608604 | 20608897 | E081 | -43868 |
chr6 | 20700682 | 20700943 | E081 | 47917 |
chr6 | 20700949 | 20701024 | E081 | 48184 |
chr6 | 20604523 | 20604671 | E082 | -48094 |
chr6 | 20695335 | 20695421 | E082 | 42570 |
chr6 | 20700682 | 20700943 | E082 | 47917 |
chr6 | 20700949 | 20701024 | E082 | 48184 |