Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.238096945G>A |
GRCh37.p13 chr 2 | NC_000002.11:g.239005586G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SCLY transcript | NM_016510.5:c. | N/A | Intron Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
UBE2F-SCLY transcript | NR_037904.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.908 | A=0.092 |
1000Genomes | American | Sub | 694 | G=0.820 | A=0.180 |
1000Genomes | East Asian | Sub | 1008 | G=0.971 | A=0.029 |
1000Genomes | Europe | Sub | 1006 | G=0.838 | A=0.162 |
1000Genomes | Global | Study-wide | 5008 | G=0.851 | A=0.149 |
1000Genomes | South Asian | Sub | 978 | G=0.690 | A=0.310 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.823 | A=0.177 |
The Genome Aggregation Database | African | Sub | 8704 | G=0.885 | A=0.115 |
The Genome Aggregation Database | American | Sub | 838 | G=0.830 | A=0.170 |
The Genome Aggregation Database | East Asian | Sub | 1622 | G=0.975 | A=0.025 |
The Genome Aggregation Database | Europe | Sub | 18460 | G=0.858 | A=0.141 |
The Genome Aggregation Database | Global | Study-wide | 29926 | G=0.871 | A=0.128 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.890 | A=0.110 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.867 | A=0.132 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.812 | A=0.188 |
PMID | Title | Author | Journal |
---|---|---|---|
23743675 | A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. | Kapoor M | Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs13033964 | 0.00011 | alcohol consumption | 23743675 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr2:239005586 | SCLY | ENSG00000132330.12 | G>A | 7.8532e-10 | 36056 | Cerebellum |
Chr2:239005586 | SCLY | ENSG00000132330.12 | G>A | 2.8719e-4 | 36056 | Frontal_Cortex_BA9 |
Chr2:239005586 | SCLY | ENSG00000132330.12 | G>A | 1.0714e-8 | 36056 | Cortex |
Chr2:239005586 | SCLY | ENSG00000132330.12 | G>A | 2.0850e-8 | 36056 | Cerebellar_Hemisphere |
Chr2:239005586 | SCLY | ENSG00000132330.12 | G>A | 1.4177e-3 | 36056 | Caudate_basal_ganglia |
Chr2:239005586 | SCLY | ENSG00000132330.12 | G>A | 7.2091e-4 | 36056 | Anterior_cingulate_cortex |
Probe ID | Position | Gene | beta | p-value |
---|---|---|---|---|
cg03558837 | chr2:239029375 | ESPNL | 0.0646226347905888 | 2.4442e-14 |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr2 | 238970839 | 238970899 | E067 | -34687 |
chr2 | 238990205 | 238990255 | E067 | -15331 |
chr2 | 238990452 | 238990751 | E067 | -14835 |
chr2 | 238970839 | 238970899 | E068 | -34687 |
chr2 | 239017313 | 239017876 | E068 | 11727 |
chr2 | 238970839 | 238970899 | E069 | -34687 |
chr2 | 238989790 | 238989866 | E069 | -15720 |
chr2 | 238989941 | 238990032 | E069 | -15554 |
chr2 | 238990205 | 238990255 | E069 | -15331 |
chr2 | 238970839 | 238970899 | E070 | -34687 |
chr2 | 238970839 | 238970899 | E071 | -34687 |
chr2 | 238989247 | 238989354 | E071 | -16232 |
chr2 | 238989790 | 238989866 | E071 | -15720 |
chr2 | 238989941 | 238990032 | E071 | -15554 |
chr2 | 238990205 | 238990255 | E071 | -15331 |
chr2 | 238990452 | 238990751 | E071 | -14835 |
chr2 | 239007116 | 239007529 | E071 | 1530 |
chr2 | 239017176 | 239017226 | E071 | 11590 |
chr2 | 239017313 | 239017876 | E071 | 11727 |
chr2 | 238989790 | 238989866 | E072 | -15720 |
chr2 | 238989941 | 238990032 | E072 | -15554 |
chr2 | 238990205 | 238990255 | E072 | -15331 |
chr2 | 238990452 | 238990751 | E072 | -14835 |
chr2 | 239014417 | 239014467 | E072 | 8831 |
chr2 | 239014951 | 239015001 | E072 | 9365 |
chr2 | 238970839 | 238970899 | E073 | -34687 |
chr2 | 239014951 | 239015001 | E073 | 9365 |
chr2 | 238989790 | 238989866 | E074 | -15720 |
chr2 | 238989941 | 238990032 | E074 | -15554 |
chr2 | 238990452 | 238990751 | E074 | -14835 |
chr2 | 239017313 | 239017876 | E074 | 11727 |
chr2 | 238994008 | 238994058 | E081 | -11528 |
chr2 | 238994372 | 238994803 | E081 | -10783 |
chr2 | 238993565 | 238993671 | E082 | -11915 |
chr2 | 238994008 | 238994058 | E082 | -11528 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 238968700 | 238970607 | E067 | -34979 |
chr2 | 238968700 | 238970607 | E068 | -34979 |
chr2 | 238968700 | 238970607 | E069 | -34979 |
chr2 | 238968700 | 238970607 | E070 | -34979 |
chr2 | 238968700 | 238970607 | E071 | -34979 |
chr2 | 238968700 | 238970607 | E072 | -34979 |
chr2 | 238968700 | 238970607 | E073 | -34979 |
chr2 | 238968700 | 238970607 | E074 | -34979 |
chr2 | 238968700 | 238970607 | E081 | -34979 |
chr2 | 238968700 | 238970607 | E082 | -34979 |