Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.207079566C>T |
GRCh37.p13 chr 1 | NC_000001.10:g.207252911C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
PFKFB2 transcript variant 2 | NM_001018053.1:c. | N/A | 3 Prime UTR Variant |
PFKFB2 transcript variant 1 | NM_006212.2:c. | N/A | Genic Downstream Transcript Variant |
PFKFB2 transcript variant X5 | XM_005273162.3:c. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.804 | T=0.196 |
1000Genomes | American | Sub | 694 | C=0.980 | T=0.020 |
1000Genomes | East Asian | Sub | 1008 | C=1.000 | T=0.000 |
1000Genomes | Europe | Sub | 1006 | C=0.978 | T=0.022 |
1000Genomes | Global | Study-wide | 5008 | C=0.940 | T=0.060 |
1000Genomes | South Asian | Sub | 978 | C=0.990 | T=0.010 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.965 | T=0.035 |
The Genome Aggregation Database | African | Sub | 8724 | C=0.827 | T=0.173 |
The Genome Aggregation Database | American | Sub | 838 | C=0.980 | T=0.020 |
The Genome Aggregation Database | East Asian | Sub | 1620 | C=1.000 | T=0.000 |
The Genome Aggregation Database | Europe | Sub | 18504 | C=0.966 | T=0.033 |
The Genome Aggregation Database | Global | Study-wide | 29988 | C=0.928 | T=0.071 |
The Genome Aggregation Database | Other | Sub | 302 | C=1.000 | T=0.000 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | C=0.913 | T=0.086 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.962 | T=0.038 |
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 |
---|---|---|---|
rs12088135 | 0.000619 | 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 ) |
---|---|---|---|---|
chr1 | 207218922 | 207219080 | E067 | -33831 |
chr1 | 207222367 | 207222491 | E067 | -30420 |
chr1 | 207222794 | 207222877 | E067 | -30034 |
chr1 | 207225351 | 207225407 | E067 | -27504 |
chr1 | 207225528 | 207225598 | E067 | -27313 |
chr1 | 207228159 | 207228553 | E067 | -24358 |
chr1 | 207218922 | 207219080 | E068 | -33831 |
chr1 | 207222367 | 207222491 | E068 | -30420 |
chr1 | 207222794 | 207222877 | E068 | -30034 |
chr1 | 207243432 | 207243828 | E068 | -9083 |
chr1 | 207258033 | 207258547 | E068 | 5122 |
chr1 | 207218922 | 207219080 | E069 | -33831 |
chr1 | 207228159 | 207228553 | E069 | -24358 |
chr1 | 207228567 | 207228751 | E069 | -24160 |
chr1 | 207229029 | 207229157 | E069 | -23754 |
chr1 | 207229226 | 207229443 | E069 | -23468 |
chr1 | 207258033 | 207258547 | E069 | 5122 |
chr1 | 207222367 | 207222491 | E070 | -30420 |
chr1 | 207222794 | 207222877 | E070 | -30034 |
chr1 | 207222944 | 207223080 | E070 | -29831 |
chr1 | 207222367 | 207222491 | E071 | -30420 |
chr1 | 207222794 | 207222877 | E071 | -30034 |
chr1 | 207225351 | 207225407 | E071 | -27504 |
chr1 | 207225528 | 207225598 | E071 | -27313 |
chr1 | 207242468 | 207242818 | E071 | -10093 |
chr1 | 207243317 | 207243388 | E071 | -9523 |
chr1 | 207243432 | 207243828 | E071 | -9083 |
chr1 | 207244263 | 207244503 | E071 | -8408 |
chr1 | 207258033 | 207258547 | E071 | 5122 |
chr1 | 207222367 | 207222491 | E072 | -30420 |
chr1 | 207222794 | 207222877 | E072 | -30034 |
chr1 | 207222944 | 207223080 | E072 | -29831 |
chr1 | 207237991 | 207238243 | E072 | -14668 |
chr1 | 207258033 | 207258547 | E072 | 5122 |
chr1 | 207206724 | 207206782 | E074 | -46129 |
chr1 | 207218922 | 207219080 | E074 | -33831 |
chr1 | 207244263 | 207244503 | E074 | -8408 |
chr1 | 207244533 | 207244622 | E074 | -8289 |
chr1 | 207244673 | 207245065 | E074 | -7846 |
chr1 | 207222367 | 207222491 | E081 | -30420 |
chr1 | 207222794 | 207222877 | E081 | -30034 |
chr1 | 207225351 | 207225407 | E081 | -27504 |
chr1 | 207225528 | 207225598 | E081 | -27313 |
chr1 | 207222794 | 207222877 | E082 | -30034 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr1 | 207223154 | 207225237 | E067 | -27674 |
chr1 | 207225992 | 207227204 | E067 | -25707 |
chr1 | 207223154 | 207225237 | E068 | -27674 |
chr1 | 207225992 | 207227204 | E068 | -25707 |
chr1 | 207223154 | 207225237 | E069 | -27674 |
chr1 | 207225992 | 207227204 | E069 | -25707 |
chr1 | 207223154 | 207225237 | E070 | -27674 |
chr1 | 207225992 | 207227204 | E070 | -25707 |
chr1 | 207223154 | 207225237 | E071 | -27674 |
chr1 | 207225992 | 207227204 | E071 | -25707 |
chr1 | 207223154 | 207225237 | E072 | -27674 |
chr1 | 207225992 | 207227204 | E072 | -25707 |
chr1 | 207223154 | 207225237 | E073 | -27674 |
chr1 | 207225992 | 207227204 | E073 | -25707 |
chr1 | 207223154 | 207225237 | E074 | -27674 |
chr1 | 207225992 | 207227204 | E074 | -25707 |
chr1 | 207223154 | 207225237 | E081 | -27674 |
chr1 | 207225992 | 207227204 | E081 | -25707 |
chr1 | 207223154 | 207225237 | E082 | -27674 |
chr1 | 207225992 | 207227204 | E082 | -25707 |