rs1059111
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1059111(A;T) |
| Make rs1059111(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 24952575 |
| Gene | NEFL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1059111 |
| dbSNP (classic) | rs1059111 |
| ClinGen | rs1059111 |
| ebi | rs1059111 |
| HLI | rs1059111 |
| Exac | rs1059111 |
| Gnomad | rs1059111 |
| Varsome | rs1059111 |
| LitVar | rs1059111 |
| Map | rs1059111 |
| PheGenI | rs1059111 |
| Biobank | rs1059111 |
| 1000 genomes | rs1059111 |
| hgdp | rs1059111 |
| ensembl | rs1059111 |
| geneview | rs1059111 |
| scholar | rs1059111 |
| rs1059111 | |
| pharmgkb | rs1059111 |
| gwascentral | rs1059111 |
| openSNP | rs1059111 |
| 23andMe | rs1059111 |
| SNPshot | rs1059111 |
| SNPdbe | rs1059111 |
| MSV3d | rs1059111 |
| GWAS Ctlg | rs1059111 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 25312269
] Common genetic variants in NEFL influence gene expression and neuroblastoma risk
| ClinVar | |
|---|---|
| Risk | rs1059111(T;T) |
| Alt | rs1059111(T;T) |
| Reference | Rs1059111(A;A) |
| Significance | Non-pathogenic |
| Disease | Charcot-Marie-Tooth |
| Variation | info |
| Gene | NEFL |
| CLNDBN | Charcot-Marie-Tooth, Type 1 |
| Reversed | 1 |
| HGVS | NC_000008.10:g.24810088T>A |
| CLNSRC | |
| CLNACC | RCV000294023.1, |
