rs191346286
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs191346286(G;T) |
Make rs191346286(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 24953704 |
Gene | MIR6841, NEFL |
is a | snp |
is | mentioned by |
dbSNP | rs191346286 |
dbSNP (classic) | rs191346286 |
ClinGen | rs191346286 |
ebi | rs191346286 |
HLI | rs191346286 |
Exac | rs191346286 |
Gnomad | rs191346286 |
Varsome | rs191346286 |
LitVar | rs191346286 |
Map | rs191346286 |
PheGenI | rs191346286 |
Biobank | rs191346286 |
1000 genomes | rs191346286 |
hgdp | rs191346286 |
ensembl | rs191346286 |
geneview | rs191346286 |
scholar | rs191346286 |
rs191346286 | |
pharmgkb | rs191346286 |
gwascentral | rs191346286 |
openSNP | rs191346286 |
23andMe | rs191346286 |
SNPshot | rs191346286 |
SNPdbe | rs191346286 |
MSV3d | rs191346286 |
GWAS Ctlg | rs191346286 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs191346286(A;A) rs191346286(T;T) |
Alt | rs191346286(A;A) rs191346286(T;T) |
Reference | Rs191346286(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2E |
Variation | info |
Gene | MIR6841 NEFL |
CLNDBN | Charcot-Marie-Tooth disease type 2E |
Reversed | 0 |
HGVS | NC_000008.10:g.24811218G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172912.2, |