Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.28362948A>T |
GRCh37.p13 chr 12 | NC_000012.11:g.28515881A>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CCDC91 transcript | NM_018318.3:c. | N/A | Intron Variant |
CCDC91 transcript variant X2 | XM_005253413.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X2 | XM_005253414.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X14 | XM_005253415.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X1 | XM_006719103.3:c. | N/A | Intron Variant |
CCDC91 transcript variant X3 | XM_006719104.2:c. | N/A | Intron Variant |
CCDC91 transcript variant X7 | XM_006719105.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X5 | XM_011520729.2:c. | N/A | Intron Variant |
CCDC91 transcript variant X8 | XM_011520731.2:c. | N/A | Intron Variant |
CCDC91 transcript variant X18 | XM_011520733.2:c. | N/A | Intron Variant |
CCDC91 transcript variant X19 | XM_011520734.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X15 | XM_011520735.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X5 | XM_017019569.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X9 | XM_017019570.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X10 | XM_017019571.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X10 | XM_017019572.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X12 | XM_017019573.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X13 | XM_017019574.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X15 | XM_017019575.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X16 | XM_017019576.1:c. | N/A | Intron Variant |
CCDC91 transcript variant X17 | XM_017019577.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.998 | T=0.002 |
1000Genomes | American | Sub | 694 | A=0.970 | T=0.030 |
1000Genomes | East Asian | Sub | 1008 | A=0.984 | T=0.016 |
1000Genomes | Europe | Sub | 1006 | A=0.960 | T=0.040 |
1000Genomes | Global | Study-wide | 5008 | A=0.959 | T=0.041 |
1000Genomes | South Asian | Sub | 978 | A=0.870 | T=0.130 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.960 | T=0.040 |
The Genome Aggregation Database | African | Sub | 8704 | A=0.993 | T=0.007 |
The Genome Aggregation Database | American | Sub | 838 | A=0.960 | T=0.040 |
The Genome Aggregation Database | East Asian | Sub | 1618 | A=0.989 | T=0.011 |
The Genome Aggregation Database | Europe | Sub | 18454 | A=0.965 | T=0.034 |
The Genome Aggregation Database | Global | Study-wide | 29914 | A=0.974 | T=0.025 |
The Genome Aggregation Database | Other | Sub | 300 | A=0.930 | T=0.070 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.973 | T=0.026 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.964 | T=0.036 |
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 |
---|---|---|---|
rs10506030 | 0.000542 | alcohol dependence | 21314694 |
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 | 28513312 | 28513457 | E074 | -2424 |