rs121913663
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
Make rs121913663(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 24956098 |
Gene | NEFL |
is a | snp |
is | mentioned by |
dbSNP | rs121913663 |
dbSNP (classic) | rs121913663 |
ClinGen | rs121913663 |
ebi | rs121913663 |
HLI | rs121913663 |
Exac | rs121913663 |
Gnomad | rs121913663 |
Varsome | rs121913663 |
LitVar | rs121913663 |
Map | rs121913663 |
PheGenI | rs121913663 |
Biobank | rs121913663 |
1000 genomes | rs121913663 |
hgdp | rs121913663 |
ensembl | rs121913663 |
geneview | rs121913663 |
scholar | rs121913663 |
rs121913663 | |
pharmgkb | rs121913663 |
gwascentral | rs121913663 |
openSNP | rs121913663 |
23andMe | rs121913663 |
SNPshot | rs121913663 |
SNPdbe | rs121913663 |
MSV3d | rs121913663 |
GWAS Ctlg | rs121913663 |
Max Magnitude | 6.1 |
ClinVar | |
---|---|
Risk | rs121913663(A;A) rs121913663(T;T) |
Alt | rs121913663(A;A) rs121913663(T;T) |
Reference | Rs121913663(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | NEFL |
CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 1f not provided |
Reversed | 1 |
HGVS | NC_000008.10:g.24813612C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015079.26, RCV000057137.1, |