| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.44533557A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.44927340A>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NELL2 transcript variant 1 | NM_001145107.1:c. | N/A | Intron Variant |
| NELL2 transcript variant 3 | NM_001145108.1:c. | N/A | Intron Variant |
| NELL2 transcript variant 4 | NM_001145109.1:c. | N/A | Intron Variant |
| NELL2 transcript variant 5 | NM_001145110.1:c. | N/A | Intron Variant |
| NELL2 transcript variant 2 | NM_006159.2:c. | N/A | Intron Variant |
| NELL2 transcript variant X6 | XM_005268905.3:c. | N/A | Intron Variant |
| NELL2 transcript variant X5 | XM_011538396.1:c. | N/A | Intron Variant |
| NELL2 transcript variant X1 | XM_017019341.1:c. | N/A | Intron Variant |
| NELL2 transcript variant X2 | XM_017019342.1:c. | N/A | Intron Variant |
| NELL2 transcript variant X3 | XM_017019343.1:c. | N/A | Intron Variant |
| NELL2 transcript variant X4 | XM_017019344.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | A=0.485 | G=0.515 |
| 1000Genomes | American | Sub | 694 | A=0.360 | G=0.640 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.272 | G=0.728 |
| 1000Genomes | Europe | Sub | 1006 | A=0.370 | G=0.630 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.376 | G=0.624 |
| 1000Genomes | South Asian | Sub | 978 | A=0.350 | G=0.650 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.364 | G=0.636 |
| The Genome Aggregation Database | African | Sub | 8698 | A=0.457 | G=0.543 |
| The Genome Aggregation Database | American | Sub | 828 | A=0.320 | G=0.680 |
| The Genome Aggregation Database | East Asian | Sub | 1614 | A=0.284 | G=0.716 |
| The Genome Aggregation Database | Europe | Sub | 18426 | A=0.345 | G=0.654 |
| The Genome Aggregation Database | Global | Study-wide | 29866 | A=0.374 | G=0.625 |
| The Genome Aggregation Database | Other | Sub | 300 | A=0.370 | G=0.630 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.400 | G=0.599 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.359 | G=0.641 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs4768555 | 0.000748 | alcohol dependence | 20201924 |
| 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 | 44913789 | 44913851 | E068 | -13489 |
| chr12 | 44913917 | 44913997 | E068 | -13343 |
| chr12 | 44914029 | 44914128 | E068 | -13212 |
| chr12 | 44901366 | 44901828 | E070 | -25512 |
| chr12 | 44902187 | 44902227 | E070 | -25113 |
| chr12 | 44902360 | 44902414 | E070 | -24926 |
| chr12 | 44913789 | 44913851 | E071 | -13489 |
| chr12 | 44913917 | 44913997 | E071 | -13343 |
| chr12 | 44913789 | 44913851 | E072 | -13489 |
| chr12 | 44913917 | 44913997 | E072 | -13343 |
| chr12 | 44914029 | 44914128 | E072 | -13212 |
| chr12 | 44913789 | 44913851 | E074 | -13489 |
| chr12 | 44913917 | 44913997 | E074 | -13343 |
| chr12 | 44914029 | 44914128 | E074 | -13212 |
| chr12 | 44925356 | 44925480 | E081 | -1860 |
| chr12 | 44925492 | 44925578 | E081 | -1762 |
| chr12 | 44925600 | 44925737 | E081 | -1603 |
| chr12 | 44934289 | 44934412 | E081 | 6949 |
| chr12 | 44901366 | 44901828 | E082 | -25512 |
| chr12 | 44913917 | 44913997 | E082 | -13343 |