rs62636505
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs62636505(C;C) |
Make rs62636505(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 24956235 |
Gene | NEFL |
is a | snp |
is | mentioned by |
dbSNP | rs62636505 |
dbSNP (classic) | rs62636505 |
ClinGen | rs62636505 |
ebi | rs62636505 |
HLI | rs62636505 |
Exac | rs62636505 |
Gnomad | rs62636505 |
Varsome | rs62636505 |
LitVar | rs62636505 |
Map | rs62636505 |
PheGenI | rs62636505 |
Biobank | rs62636505 |
1000 genomes | rs62636505 |
hgdp | rs62636505 |
ensembl | rs62636505 |
geneview | rs62636505 |
scholar | rs62636505 |
rs62636505 | |
pharmgkb | rs62636505 |
gwascentral | rs62636505 |
openSNP | rs62636505 |
23andMe | rs62636505 |
SNPshot | rs62636505 |
SNPdbe | rs62636505 |
MSV3d | rs62636505 |
GWAS Ctlg | rs62636505 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62636505(C;C) |
Alt | rs62636505(C;C) |
Reference | Rs62636505(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2E not provided |
Variation | info |
Gene | NEFL |
CLNDBN | Charcot-Marie-Tooth disease type 2E not provided |
Reversed | 1 |
HGVS | NC_000008.10:g.24813749A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015078.22, RCV000057135.1, |