rs730880033
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880033(C;C) |
Make rs730880033(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 23767463 |
Gene | CHCHD10, LOC107985577 |
is a | snp |
is | mentioned by |
dbSNP | rs730880033 |
dbSNP (classic) | rs730880033 |
ClinGen | rs730880033 |
ebi | rs730880033 |
HLI | rs730880033 |
Exac | rs730880033 |
Gnomad | rs730880033 |
Varsome | rs730880033 |
LitVar | rs730880033 |
Map | rs730880033 |
PheGenI | rs730880033 |
Biobank | rs730880033 |
1000 genomes | rs730880033 |
hgdp | rs730880033 |
ensembl | rs730880033 |
geneview | rs730880033 |
scholar | rs730880033 |
rs730880033 | |
pharmgkb | rs730880033 |
gwascentral | rs730880033 |
openSNP | rs730880033 |
23andMe | rs730880033 |
SNPshot | rs730880033 |
SNPdbe | rs730880033 |
MSV3d | rs730880033 |
GWAS Ctlg | rs730880033 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880033(C;C) |
Alt | rs730880033(C;C) |
Reference | Rs730880033(G;G) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | CHCHD10 |
CLNDBN | Myopathy, isolated mitochondrial, autosomal dominant |
Reversed | 1 |
HGVS | NC_000022.10:g.24109650C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000157071.4, RCV000192234.1, |