rs864622678
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GG;GG) | 0 | common in clinvar |
Make rs864622678(GG;T) |
Make rs864622678(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 15239509 |
Gene | PMP22 |
is a | snp |
is | mentioned by |
dbSNP | rs864622678 |
dbSNP (classic) | rs864622678 |
ClinGen | rs864622678 |
ebi | rs864622678 |
HLI | rs864622678 |
Exac | rs864622678 |
Gnomad | rs864622678 |
Varsome | rs864622678 |
LitVar | rs864622678 |
Map | rs864622678 |
PheGenI | rs864622678 |
Biobank | rs864622678 |
1000 genomes | rs864622678 |
hgdp | rs864622678 |
ensembl | rs864622678 |
geneview | rs864622678 |
scholar | rs864622678 |
rs864622678 | |
pharmgkb | rs864622678 |
gwascentral | rs864622678 |
openSNP | rs864622678 |
23andMe | rs864622678 |
SNPshot | rs864622678 |
SNPdbe | rs864622678 |
MSV3d | rs864622678 |
GWAS Ctlg | rs864622678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622678(T;T) |
Alt | rs864622678(T;T) |
Reference | Rs864622678(GG;GG) |
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.15142826_15142827delCCinsA |
CLNSRC | |
CLNACC | RCV000206452.2, |