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, |