rs864622180
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864622180(-;-) |
Make rs864622180(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 15259134 |
Gene | PMP22 |
is a | snp |
is | mentioned by |
dbSNP | rs864622180 |
dbSNP (classic) | rs864622180 |
ClinGen | rs864622180 |
ebi | rs864622180 |
HLI | rs864622180 |
Exac | rs864622180 |
Gnomad | rs864622180 |
Varsome | rs864622180 |
LitVar | rs864622180 |
Map | rs864622180 |
PheGenI | rs864622180 |
Biobank | rs864622180 |
1000 genomes | rs864622180 |
hgdp | rs864622180 |
ensembl | rs864622180 |
geneview | rs864622180 |
scholar | rs864622180 |
rs864622180 | |
pharmgkb | rs864622180 |
gwascentral | rs864622180 |
openSNP | rs864622180 |
23andMe | rs864622180 |
SNPshot | rs864622180 |
SNPdbe | rs864622180 |
MSV3d | rs864622180 |
GWAS Ctlg | rs864622180 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622180(-;-) |
Alt | rs864622180(-;-) |
Reference | Rs864622180(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | PMP22 |
CLNDBN | Charcot-Marie-Tooth disease, type I |
Reversed | 1 |
HGVS | NC_000017.10:g.15162451delG |
CLNSRC | |
CLNACC | RCV000206056.1, |