rs876661155
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs876661155(C;C) |
Make rs876661155(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 8 |
Position | 24956029 |
Gene | NEFL |
is a | snp |
is | mentioned by |
dbSNP | rs876661155 |
dbSNP (classic) | rs876661155 |
ClinGen | rs876661155 |
ebi | rs876661155 |
HLI | rs876661155 |
Exac | rs876661155 |
Gnomad | rs876661155 |
Varsome | rs876661155 |
LitVar | rs876661155 |
Map | rs876661155 |
PheGenI | rs876661155 |
Biobank | rs876661155 |
1000 genomes | rs876661155 |
hgdp | rs876661155 |
ensembl | rs876661155 |
geneview | rs876661155 |
scholar | rs876661155 |
rs876661155 | |
pharmgkb | rs876661155 |
gwascentral | rs876661155 |
openSNP | rs876661155 |
23andMe | rs876661155 |
SNPshot | rs876661155 |
SNPdbe | rs876661155 |
MSV3d | rs876661155 |
GWAS Ctlg | rs876661155 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876661155(C;C) rs876661155(T;T) |
Alt | rs876661155(C;C) rs876661155(T;T) |
Reference | Rs876661155(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2E not specified |
Variation | info |
Gene | NEFL |
CLNDBN | Charcot-Marie-Tooth disease type 2E not specified |
Reversed | 1 |
HGVS | NC_000008.10:g.24813543C>A; NC_000008.10:g.24813543C>G |
CLNSRC | |
CLNACC | RCV000408890.1, RCV000218821.1, |