rs59443585
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs59443585(A;C) |
Make rs59443585(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 24955521 |
Gene | MIR6841, NEFL |
is a | snp |
is | mentioned by |
dbSNP | rs59443585 |
dbSNP (classic) | rs59443585 |
ClinGen | rs59443585 |
ebi | rs59443585 |
HLI | rs59443585 |
Exac | rs59443585 |
Gnomad | rs59443585 |
Varsome | rs59443585 |
LitVar | rs59443585 |
Map | rs59443585 |
PheGenI | rs59443585 |
Biobank | rs59443585 |
1000 genomes | rs59443585 |
hgdp | rs59443585 |
ensembl | rs59443585 |
geneview | rs59443585 |
scholar | rs59443585 |
rs59443585 | |
pharmgkb | rs59443585 |
gwascentral | rs59443585 |
openSNP | rs59443585 |
23andMe | rs59443585 |
SNPshot | rs59443585 |
SNPdbe | rs59443585 |
MSV3d | rs59443585 |
GWAS Ctlg | rs59443585 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59443585(C;C) |
Alt | rs59443585(C;C) |
Reference | Rs59443585(A;A) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2E not provided |
Variation | info |
Gene | MIR6841 NEFL |
CLNDBN | Charcot-Marie-Tooth disease type 2E not provided |
Reversed | 1 |
HGVS | NC_000008.10:g.24813035T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015072.25, RCV000057151.1, |