Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.94335801C>T |
GRCh37.p13 chr 12 | NC_000012.11:g.94729577C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CEP83 transcript variant 2 | NM_001042399.1:c. | N/A | Intron Variant |
CEP83 transcript variant 1 | NM_016122.2:c. | N/A | Intron Variant |
CEP83 transcript variant X10 | XM_006719437.2:c. | N/A | Intron Variant |
CEP83 transcript variant X2 | XM_011538424.1:c. | N/A | Intron Variant |
CEP83 transcript variant X12 | XM_011538427.2:c. | N/A | Intron Variant |
CEP83 transcript variant X16 | XM_011538429.2:c. | N/A | Intron Variant |
CEP83 transcript variant X8 | XM_017019385.1:c. | N/A | Intron Variant |
CEP83 transcript variant X9 | XM_017019386.1:c. | N/A | Intron Variant |
CEP83 transcript variant X13 | XM_017019387.1:c. | N/A | Intron Variant |
CEP83 transcript variant X12 | XM_017019388.1:c. | N/A | Intron Variant |
CEP83 transcript variant X15 | XM_017019389.1:c. | N/A | Intron Variant |
CEP83 transcript variant X1 | XR_001748731.1:n. | N/A | Intron Variant |
CEP83 transcript variant X3 | XR_001748732.1:n. | N/A | Intron Variant |
CEP83 transcript variant X4 | XR_001748733.1:n. | N/A | Intron Variant |
CEP83 transcript variant X5 | XR_001748734.1:n. | N/A | Intron Variant |
CEP83 transcript variant X6 | XR_001748735.1:n. | N/A | Intron Variant |
CEP83 transcript variant X7 | XR_001748736.1:n. | N/A | Intron Variant |
CEP83 transcript variant X11 | XR_001748737.1:n. | N/A | Intron Variant |
CEP83 transcript variant X17 | XR_001748738.1:n. | N/A | Intron Variant |
CEP83 transcript variant X18 | XR_001748739.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.962 | T=0.038 |
1000Genomes | American | Sub | 694 | C=0.870 | T=0.130 |
1000Genomes | East Asian | Sub | 1008 | C=0.941 | T=0.059 |
1000Genomes | Europe | Sub | 1006 | C=0.879 | T=0.121 |
1000Genomes | Global | Study-wide | 5008 | C=0.924 | T=0.076 |
1000Genomes | South Asian | Sub | 978 | C=0.940 | T=0.060 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.884 | T=0.116 |
The Genome Aggregation Database | African | Sub | 8728 | C=0.958 | T=0.042 |
The Genome Aggregation Database | American | Sub | 836 | C=0.830 | T=0.170 |
The Genome Aggregation Database | East Asian | Sub | 1618 | C=0.943 | T=0.057 |
The Genome Aggregation Database | Europe | Sub | 18466 | C=0.890 | T=0.109 |
The Genome Aggregation Database | Global | Study-wide | 29948 | C=0.911 | T=0.088 |
The Genome Aggregation Database | Other | Sub | 300 | C=0.870 | T=0.130 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.907 | T=0.092 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.888 | T=0.112 |
PMID | Title | Author | Journal |
---|---|---|---|
19581569 | Genome-wide association study of alcohol dependence. | Treutlein J | Arch Gen Psychiatry |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs4761605 | 1.64E-05 | alcohol dependence | 19581569 |
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 ) |
---|---|---|---|---|
chr12 | 94683191 | 94684503 | E067 | -45074 |
chr12 | 94679910 | 94680004 | E068 | -49573 |
chr12 | 94680042 | 94680117 | E068 | -49460 |
chr12 | 94680142 | 94680240 | E068 | -49337 |
chr12 | 94680319 | 94680369 | E068 | -49208 |
chr12 | 94680499 | 94681277 | E068 | -48300 |
chr12 | 94679801 | 94679849 | E070 | -49728 |
chr12 | 94679910 | 94680004 | E070 | -49573 |
chr12 | 94680042 | 94680117 | E070 | -49460 |
chr12 | 94680142 | 94680240 | E070 | -49337 |
chr12 | 94680319 | 94680369 | E070 | -49208 |
chr12 | 94680499 | 94681277 | E070 | -48300 |
chr12 | 94681360 | 94681533 | E070 | -48044 |
chr12 | 94683191 | 94684503 | E070 | -45074 |
chr12 | 94684662 | 94684799 | E070 | -44778 |
chr12 | 94684829 | 94684877 | E070 | -44700 |
chr12 | 94698030 | 94698114 | E070 | -31463 |
chr12 | 94698292 | 94699706 | E070 | -29871 |
chr12 | 94735609 | 94735690 | E070 | 6032 |
chr12 | 94683191 | 94684503 | E074 | -45074 |
chr12 | 94683191 | 94684503 | E081 | -45074 |
chr12 | 94680042 | 94680117 | E082 | -49460 |
chr12 | 94680142 | 94680240 | E082 | -49337 |
chr12 | 94680319 | 94680369 | E082 | -49208 |
chr12 | 94680499 | 94681277 | E082 | -48300 |