rs59101996
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs59101996(C;T) |
Make rs59101996(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 24956070 |
Gene | NEFL |
is a | snp |
is | mentioned by |
dbSNP | rs59101996 |
dbSNP (classic) | rs59101996 |
ClinGen | rs59101996 |
ebi | rs59101996 |
HLI | rs59101996 |
Exac | rs59101996 |
Gnomad | rs59101996 |
Varsome | rs59101996 |
LitVar | rs59101996 |
Map | rs59101996 |
PheGenI | rs59101996 |
Biobank | rs59101996 |
1000 genomes | rs59101996 |
hgdp | rs59101996 |
ensembl | rs59101996 |
geneview | rs59101996 |
scholar | rs59101996 |
rs59101996 | |
pharmgkb | rs59101996 |
gwascentral | rs59101996 |
openSNP | rs59101996 |
23andMe | rs59101996 |
SNPshot | rs59101996 |
SNPdbe | rs59101996 |
MSV3d | rs59101996 |
GWAS Ctlg | rs59101996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59101996(T;T) |
Alt | rs59101996(T;T) |
Reference | Rs59101996(C;C) |
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.24813584G>A |
CLNSRC | ClinVar Epithelial Biology GeneReviews |
CLNACC | RCV000034137.2, RCV000057139.1, |