rs876657411
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs876657411(-;-) |
Make rs876657411(-;GA) |
Make rs876657411(GA;GA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 29490650 |
Gene | NEFH |
is a | snp |
is | mentioned by |
dbSNP | rs876657411 |
dbSNP (classic) | rs876657411 |
ClinGen | rs876657411 |
ebi | rs876657411 |
HLI | rs876657411 |
Exac | rs876657411 |
Gnomad | rs876657411 |
Varsome | rs876657411 |
LitVar | rs876657411 |
Map | rs876657411 |
PheGenI | rs876657411 |
Biobank | rs876657411 |
1000 genomes | rs876657411 |
hgdp | rs876657411 |
ensembl | rs876657411 |
geneview | rs876657411 |
scholar | rs876657411 |
rs876657411 | |
pharmgkb | rs876657411 |
gwascentral | rs876657411 |
openSNP | rs876657411 |
23andMe | rs876657411 |
SNPshot | rs876657411 |
SNPdbe | rs876657411 |
MSV3d | rs876657411 |
GWAS Ctlg | rs876657411 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657411(-;-) |
Alt | rs876657411(-;-) |
Reference | Rs876657411(AG;AG) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | NEFH |
CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2CC |
Reversed | 0 |
HGVS | NC_000022.10:g.29886639_29886640delGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210935.2, |