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, |