rs2979704
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2979704(C;T) |
| Make rs2979704(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 24951554 |
| Gene | NEFL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2979704 |
| dbSNP (classic) | rs2979704 |
| ClinGen | rs2979704 |
| ebi | rs2979704 |
| HLI | rs2979704 |
| Exac | rs2979704 |
| Gnomad | rs2979704 |
| Varsome | rs2979704 |
| LitVar | rs2979704 |
| Map | rs2979704 |
| PheGenI | rs2979704 |
| Biobank | rs2979704 |
| 1000 genomes | rs2979704 |
| hgdp | rs2979704 |
| ensembl | rs2979704 |
| geneview | rs2979704 |
| scholar | rs2979704 |
| rs2979704 | |
| pharmgkb | rs2979704 |
| gwascentral | rs2979704 |
| openSNP | rs2979704 |
| 23andMe | rs2979704 |
| SNPshot | rs2979704 |
| SNPdbe | rs2979704 |
| MSV3d | rs2979704 |
| GWAS Ctlg | rs2979704 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 25312269
] Common genetic variants in NEFL influence gene expression and neuroblastoma risk
| ClinVar | |
|---|---|
| Risk | rs2979704(T;T) |
| Alt | rs2979704(T;T) |
| Reference | Rs2979704(C;C) |
| Significance | Non-pathogenic |
| Disease | Charcot-Marie-Tooth |
| Variation | info |
| Gene | NEFL |
| CLNDBN | Charcot-Marie-Tooth, Type 1 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.24809067C>T |
| CLNSRC | |
| CLNACC | RCV000311138.1, |
