rs10195005
Homo sapiens
G>A
None
SNV (Single Nucleotide Variation)
G==0303 (9084/29936,GnomAD)
G==0319 (9287/29116,TOPMED)
G==0367 (1839/5008,1000G)
G==0328 (1263/3854,ALSPAC)
G==0330 (1223/3708,TWINSUK)
G==0319 (9287/29116,TOPMED)
G==0367 (1839/5008,1000G)
G==0328 (1263/3854,ALSPAC)
G==0330 (1223/3708,TWINSUK)
chr2:59544505 (GRCh38.p7) (2p16.1)
AD
GWASdb2
Genomic Coordinates
| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 2 | NC_000002.12:g.59544505G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.59771640G>A |
Population Frequency
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.284 | A=0.716 |
| 1000Genomes | American | Sub | 694 | G=0.410 | A=0.590 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.525 | A=0.475 |
| 1000Genomes | Europe | Sub | 1006 | G=0.324 | A=0.676 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.367 | A=0.633 |
| 1000Genomes | South Asian | Sub | 978 | G=0.330 | A=0.670 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.328 | A=0.672 |
| The Genome Aggregation Database | African | Sub | 8710 | G=0.280 | A=0.720 |
| The Genome Aggregation Database | American | Sub | 838 | G=0.430 | A=0.570 |
| The Genome Aggregation Database | East Asian | Sub | 1610 | G=0.533 | A=0.467 |
| The Genome Aggregation Database | Europe | Sub | 18476 | G=0.288 | A=0.711 |
| The Genome Aggregation Database | Global | Study-wide | 29936 | G=0.303 | A=0.696 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.330 | A=0.670 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | G=0.319 | A=0.681 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.330 | A=0.670 |
| 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 |
P-Value
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs10195005 | 4.64E-05 | alcohol consumption | 23743675 |
eQTL of rs10195005 in Brain tissues (GTEx Analysis Release V7)
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
|---|---|---|---|---|---|---|---|
| There is no eQTL annotation for this SNP | |||||||
meQTL of rs10195005 in Fetal Brain
| Probe ID | Position | Gene | beta | p-value | |||
|---|---|---|---|---|---|---|---|
| There is no meQTL annotation for this SNP | |||||||
Genomic View
Chromatin Interaction
Enhancer Annotation (GRCh37.p13)
| Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
|---|---|---|---|---|
| chr2 | 59812236 | 59812346 | E070 | 40596 |
| chr2 | 59812673 | 59813110 | E070 | 41033 |
| chr2 | 59813306 | 59813694 | E070 | 41666 |
| chr2 | 59812673 | 59813110 | E071 | 41033 |
| chr2 | 59812673 | 59813110 | E072 | 41033 |
| chr2 | 59812673 | 59813110 | E074 | 41033 |
| chr2 | 59793570 | 59793733 | E081 | 21930 |
| chr2 | 59793775 | 59794244 | E081 | 22135 |
| chr2 | 59794294 | 59794429 | E081 | 22654 |
| chr2 | 59794482 | 59795096 | E081 | 22842 |
| chr2 | 59795318 | 59795414 | E081 | 23678 |
| chr2 | 59795566 | 59795892 | E081 | 23926 |
| chr2 | 59798318 | 59798751 | E081 | 26678 |
| chr2 | 59799462 | 59799668 | E081 | 27822 |
| chr2 | 59812673 | 59813110 | E081 | 41033 |
| chr2 | 59793570 | 59793733 | E082 | 21930 |
| chr2 | 59793775 | 59794244 | E082 | 22135 |
| chr2 | 59794294 | 59794429 | E082 | 22654 |
| chr2 | 59794482 | 59795096 | E082 | 22842 |
| chr2 | 59795318 | 59795414 | E082 | 23678 |
| chr2 | 59812236 | 59812346 | E082 | 40596 |
| chr2 | 59812673 | 59813110 | E082 | 41033 |
| chr2 | 59813306 | 59813694 | E082 | 41666 |
| chr2 | 59815403 | 59815727 | E082 | 43763 |
| chr2 | 59815733 | 59815897 | E082 | 44093 |