rs786204064
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786204064(A;G) |
Make rs786204064(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 15239482 |
Gene | PMP22 |
is a | snp |
is | mentioned by |
dbSNP | rs786204064 |
dbSNP (classic) | rs786204064 |
ClinGen | rs786204064 |
ebi | rs786204064 |
HLI | rs786204064 |
Exac | rs786204064 |
Gnomad | rs786204064 |
Varsome | rs786204064 |
LitVar | rs786204064 |
Map | rs786204064 |
PheGenI | rs786204064 |
Biobank | rs786204064 |
1000 genomes | rs786204064 |
hgdp | rs786204064 |
ensembl | rs786204064 |
geneview | rs786204064 |
scholar | rs786204064 |
rs786204064 | |
pharmgkb | rs786204064 |
gwascentral | rs786204064 |
openSNP | rs786204064 |
23andMe | rs786204064 |
SNPshot | rs786204064 |
SNPdbe | rs786204064 |
MSV3d | rs786204064 |
GWAS Ctlg | rs786204064 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204064(G;G) |
Alt | rs786204064(G;G) |
Reference | Rs786204064(A;A) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | PMP22 |
CLNDBN | Charcot-Marie-Tooth disease, type I not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.15142799T>C |
CLNSRC | |
CLNACC | RCV000167942.1, RCV000493971.1, |