Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.138594992C>T |
GRCh37.p13 chr 3 | NC_000003.11:g.138313834C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CEP70 transcript variant 2 | NM_001288964.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant 3 | NM_001288965.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant 4 | NM_001288966.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant 5 | NM_001288967.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant 6 | NM_001320598.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant 7 | NM_001320599.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant 1 | NM_024491.3:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant 8 | NM_001320600.1:c. | N/A | N/A |
CEP70 transcript variant X2 | XM_017007271.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X3 | XM_017007272.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X4 | XM_017007273.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X5 | XM_017007274.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X7 | XM_017007275.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X9 | XM_017007277.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X10 | XM_017007278.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X12 | XM_017007279.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X13 | XM_017007280.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X15 | XM_017007282.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X16 | XM_017007283.1:c. | N/A | Upstream Transcript Variant |
CEP70 transcript variant X6 | XM_005247805.3:c. | N/A | N/A |
CEP70 transcript variant X11 | XM_011513209.2:c. | N/A | N/A |
CEP70 transcript variant X1 | XM_017007270.1:c. | N/A | N/A |
CEP70 transcript variant X8 | XM_017007276.1:c. | N/A | N/A |
CEP70 transcript variant X14 | XM_017007281.1:c. | N/A | N/A |
CEP70 transcript variant X17 | XM_017007284.1:c. | N/A | N/A |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.834 | T=0.166 |
1000Genomes | American | Sub | 694 | C=0.360 | T=0.640 |
1000Genomes | East Asian | Sub | 1008 | C=0.450 | T=0.550 |
1000Genomes | Europe | Sub | 1006 | C=0.495 | T=0.505 |
1000Genomes | Global | Study-wide | 5008 | C=0.537 | T=0.463 |
1000Genomes | South Asian | Sub | 978 | C=0.390 | T=0.610 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.455 | T=0.545 |
The Genome Aggregation Database | African | Sub | 8700 | C=0.800 | T=0.200 |
The Genome Aggregation Database | American | Sub | 834 | C=0.300 | T=0.700 |
The Genome Aggregation Database | East Asian | Sub | 1616 | C=0.413 | T=0.587 |
The Genome Aggregation Database | Europe | Sub | 18450 | C=0.464 | T=0.535 |
The Genome Aggregation Database | Global | Study-wide | 29902 | C=0.556 | T=0.443 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.590 | T=0.410 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.620 | T=0.379 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.466 | T=0.534 |
PMID | Title | Author | Journal |
---|---|---|---|
21314694 | Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. | Kendler KS | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs529615 | 0.000282 | alcohol dependence | 21314694 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr3:138313834 | FAIM | ENSG00000158234.8 | C>T | 4.6517e-4 | -13617 | Cerebellum |
Chr3:138313834 | FAIM | ENSG00000158234.8 | C>T | 2.6244e-4 | -13617 | Frontal_Cortex_BA9 |
Chr3:138313834 | FAIM | ENSG00000158234.8 | C>T | 1.7968e-3 | -13617 | Cortex |
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 | 138298111 | 138298277 | E067 | -15557 |
chr3 | 138298436 | 138298651 | E067 | -15183 |
chr3 | 138297917 | 138298102 | E068 | -15732 |
chr3 | 138298111 | 138298277 | E068 | -15557 |
chr3 | 138298436 | 138298651 | E068 | -15183 |
chr3 | 138345468 | 138345574 | E068 | 31634 |
chr3 | 138298436 | 138298651 | E069 | -15183 |
chr3 | 138337354 | 138337920 | E069 | 23520 |
chr3 | 138344637 | 138345252 | E069 | 30803 |
chr3 | 138310285 | 138310847 | E070 | -2987 |
chr3 | 138311268 | 138311337 | E070 | -2497 |
chr3 | 138311483 | 138311532 | E070 | -2302 |
chr3 | 138330425 | 138330475 | E070 | 16591 |
chr3 | 138311268 | 138311337 | E071 | -2497 |
chr3 | 138311483 | 138311532 | E071 | -2302 |
chr3 | 138344637 | 138345252 | E071 | 30803 |
chr3 | 138345468 | 138345574 | E071 | 31634 |
chr3 | 138298111 | 138298277 | E072 | -15557 |
chr3 | 138345468 | 138345574 | E072 | 31634 |
chr3 | 138297653 | 138297823 | E074 | -16011 |
chr3 | 138297917 | 138298102 | E074 | -15732 |
chr3 | 138298111 | 138298277 | E074 | -15557 |
chr3 | 138298436 | 138298651 | E074 | -15183 |
chr3 | 138337354 | 138337920 | E074 | 23520 |
chr3 | 138344637 | 138345252 | E074 | 30803 |
chr3 | 138345468 | 138345574 | E074 | 31634 |
chr3 | 138311268 | 138311337 | E081 | -2497 |
chr3 | 138311483 | 138311532 | E081 | -2302 |
chr3 | 138311268 | 138311337 | E082 | -2497 |
chr3 | 138311483 | 138311532 | E082 | -2302 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr3 | 138312347 | 138314055 | E067 | 0 |
chr3 | 138327089 | 138328946 | E067 | 13255 |
chr3 | 138312347 | 138314055 | E068 | 0 |
chr3 | 138327089 | 138328946 | E068 | 13255 |
chr3 | 138312347 | 138314055 | E069 | 0 |
chr3 | 138327089 | 138328946 | E069 | 13255 |
chr3 | 138312347 | 138314055 | E070 | 0 |
chr3 | 138327089 | 138328946 | E070 | 13255 |
chr3 | 138312347 | 138314055 | E071 | 0 |
chr3 | 138327089 | 138328946 | E071 | 13255 |
chr3 | 138312347 | 138314055 | E072 | 0 |
chr3 | 138327089 | 138328946 | E072 | 13255 |
chr3 | 138312347 | 138314055 | E073 | 0 |
chr3 | 138327089 | 138328946 | E073 | 13255 |
chr3 | 138312347 | 138314055 | E074 | 0 |
chr3 | 138327089 | 138328946 | E074 | 13255 |
chr3 | 138312347 | 138314055 | E081 | 0 |
chr3 | 138312347 | 138314055 | E082 | 0 |
chr3 | 138327089 | 138328946 | E082 | 13255 |