Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.101338877C>T |
GRCh37.p13 chr 12 | NC_000012.11:g.101732655C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
UTP20 transcript | NM_014503.2:c.393...NM_014503.2:c.3933C>T | S [AGC]> S [AGT] | Coding Sequence Variant |
small subunit processome component 20 homolog | NP_055318.2:p.Ser...NP_055318.2:p.Ser1311= | S [Ser]> S [Ser] | Synonymous Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.846 | T=0.154 |
1000Genomes | American | Sub | 694 | C=0.680 | T=0.320 |
1000Genomes | East Asian | Sub | 1008 | C=0.625 | T=0.375 |
1000Genomes | Europe | Sub | 1006 | C=0.762 | T=0.238 |
1000Genomes | Global | Study-wide | 5008 | C=0.743 | T=0.257 |
1000Genomes | South Asian | Sub | 978 | C=0.750 | T=0.250 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.771 | T=0.229 |
The Exome Aggregation Consortium | American | Sub | 21948 | C=0.730 | T=0.270 |
The Exome Aggregation Consortium | Asian | Sub | 25150 | C=0.710 | T=0.289 |
The Exome Aggregation Consortium | Europe | Sub | 73252 | C=0.771 | T=0.228 |
The Exome Aggregation Consortium | Global | Study-wide | 121256 | C=0.751 | T=0.248 |
The Exome Aggregation Consortium | Other | Sub | 906 | C=0.730 | T=0.270 |
The Genome Aggregation Database | African | Sub | 8720 | C=0.828 | T=0.172 |
The Genome Aggregation Database | American | Sub | 836 | C=0.660 | T=0.340 |
The Genome Aggregation Database | East Asian | Sub | 1610 | C=0.644 | T=0.356 |
The Genome Aggregation Database | Europe | Sub | 18450 | C=0.773 | T=0.226 |
The Genome Aggregation Database | Global | Study-wide | 29916 | C=0.778 | T=0.221 |
The Genome Aggregation Database | Other | Sub | 300 | C=0.710 | T=0.290 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.773 | T=0.226 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.768 | T=0.232 |
PMID | Title | Author | Journal |
---|---|---|---|
24962325 | Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. | Kapoor M | Drug Alcohol Depend |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs56265469 | 1.25E-07 | alcohol dependence (age at onset) | 24962325 |
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 | 101691390 | 101691641 | E067 | -41014 |
chr12 | 101692002 | 101692211 | E067 | -40444 |
chr12 | 101692243 | 101692491 | E067 | -40164 |
chr12 | 101692002 | 101692211 | E069 | -40444 |
chr12 | 101692243 | 101692491 | E069 | -40164 |
chr12 | 101684127 | 101684167 | E071 | -48488 |
chr12 | 101691390 | 101691641 | E071 | -41014 |
chr12 | 101691390 | 101691641 | E072 | -41014 |
chr12 | 101692002 | 101692211 | E072 | -40444 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr12 | 101692853 | 101693016 | E067 | -39639 |
chr12 | 101693076 | 101693399 | E067 | -39256 |
chr12 | 101693724 | 101694082 | E067 | -38573 |
chr12 | 101692853 | 101693016 | E068 | -39639 |
chr12 | 101693076 | 101693399 | E068 | -39256 |
chr12 | 101692853 | 101693016 | E069 | -39639 |
chr12 | 101693076 | 101693399 | E069 | -39256 |
chr12 | 101693724 | 101694082 | E069 | -38573 |
chr12 | 101692853 | 101693016 | E071 | -39639 |
chr12 | 101693076 | 101693399 | E071 | -39256 |
chr12 | 101693724 | 101694082 | E071 | -38573 |
chr12 | 101692853 | 101693016 | E072 | -39639 |
chr12 | 101693076 | 101693399 | E072 | -39256 |
chr12 | 101692853 | 101693016 | E074 | -39639 |
chr12 | 101693076 | 101693399 | E074 | -39256 |
chr12 | 101693724 | 101694082 | E074 | -38573 |