Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 5 | NC_000005.10:g.121982225C>T |
GRCh37.p13 chr 5 | NC_000005.9:g.121317920C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SRFBP1 transcript | NM_152546.2:c. | N/A | Intron Variant |
SRFBP1 transcript variant X1 | XM_017009111.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.092 | T=0.908 |
1000Genomes | American | Sub | 694 | C=0.090 | T=0.910 |
1000Genomes | East Asian | Sub | 1008 | C=0.038 | T=0.962 |
1000Genomes | Europe | Sub | 1006 | C=0.124 | T=0.876 |
1000Genomes | Global | Study-wide | 5008 | C=0.089 | T=0.911 |
1000Genomes | South Asian | Sub | 978 | C=0.100 | T=0.900 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.138 | T=0.862 |
The Genome Aggregation Database | African | Sub | 8726 | C=0.091 | T=0.909 |
The Genome Aggregation Database | American | Sub | 836 | C=0.100 | T=0.900 |
The Genome Aggregation Database | East Asian | Sub | 1614 | C=0.032 | T=0.968 |
The Genome Aggregation Database | Europe | Sub | 18428 | C=0.135 | T=0.864 |
The Genome Aggregation Database | Global | Study-wide | 29906 | C=0.116 | T=0.883 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.170 | T=0.830 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.102 | T=0.897 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.129 | T=0.871 |
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 |
---|---|---|---|
rs4496732 | 6.35E-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 ) |
---|---|---|---|---|
chr5 | 121299247 | 121299484 | E067 | -18436 |
chr5 | 121304742 | 121305335 | E067 | -12585 |
chr5 | 121305396 | 121305574 | E067 | -12346 |
chr5 | 121305703 | 121305869 | E067 | -12051 |
chr5 | 121299247 | 121299484 | E068 | -18436 |
chr5 | 121304512 | 121304619 | E068 | -13301 |
chr5 | 121304742 | 121305335 | E068 | -12585 |
chr5 | 121305396 | 121305574 | E068 | -12346 |
chr5 | 121305703 | 121305869 | E068 | -12051 |
chr5 | 121299247 | 121299484 | E069 | -18436 |
chr5 | 121304512 | 121304619 | E069 | -13301 |
chr5 | 121304742 | 121305335 | E069 | -12585 |
chr5 | 121305396 | 121305574 | E069 | -12346 |
chr5 | 121305703 | 121305869 | E069 | -12051 |
chr5 | 121322018 | 121322198 | E069 | 4098 |
chr5 | 121299247 | 121299484 | E070 | -18436 |
chr5 | 121305703 | 121305869 | E070 | -12051 |
chr5 | 121296660 | 121296724 | E071 | -21196 |
chr5 | 121304512 | 121304619 | E071 | -13301 |
chr5 | 121304742 | 121305335 | E071 | -12585 |
chr5 | 121305396 | 121305574 | E071 | -12346 |
chr5 | 121305703 | 121305869 | E071 | -12051 |
chr5 | 121322018 | 121322198 | E071 | 4098 |
chr5 | 121349393 | 121349476 | E071 | 31473 |
chr5 | 121304512 | 121304619 | E073 | -13301 |
chr5 | 121304742 | 121305335 | E073 | -12585 |
chr5 | 121305396 | 121305574 | E073 | -12346 |
chr5 | 121299247 | 121299484 | E074 | -18436 |
chr5 | 121304742 | 121305335 | E074 | -12585 |
chr5 | 121305396 | 121305574 | E074 | -12346 |
chr5 | 121305703 | 121305869 | E074 | -12051 |
chr5 | 121322018 | 121322198 | E074 | 4098 |
chr5 | 121351329 | 121351407 | E081 | 33409 |
chr5 | 121351329 | 121351407 | E082 | 33409 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr5 | 121296932 | 121298622 | E067 | -19298 |
chr5 | 121296932 | 121298622 | E068 | -19298 |
chr5 | 121296932 | 121298622 | E069 | -19298 |
chr5 | 121296932 | 121298622 | E070 | -19298 |
chr5 | 121296932 | 121298622 | E071 | -19298 |
chr5 | 121296932 | 121298622 | E072 | -19298 |
chr5 | 121296932 | 121298622 | E073 | -19298 |
chr5 | 121296932 | 121298622 | E074 | -19298 |
chr5 | 121296932 | 121298622 | E081 | -19298 |
chr5 | 121296932 | 121298622 | E082 | -19298 |