rs398122419
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122419(C;T) |
Make rs398122419(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 73480777 |
Gene | MTO1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122419 |
dbSNP (classic) | rs398122419 |
ClinGen | rs398122419 |
ebi | rs398122419 |
HLI | rs398122419 |
Exac | rs398122419 |
Gnomad | rs398122419 |
Varsome | rs398122419 |
LitVar | rs398122419 |
Map | rs398122419 |
PheGenI | rs398122419 |
Biobank | rs398122419 |
1000 genomes | rs398122419 |
hgdp | rs398122419 |
ensembl | rs398122419 |
geneview | rs398122419 |
scholar | rs398122419 |
rs398122419 | |
pharmgkb | rs398122419 |
gwascentral | rs398122419 |
openSNP | rs398122419 |
23andMe | rs398122419 |
SNPshot | rs398122419 |
SNPdbe | rs398122419 |
MSV3d | rs398122419 |
GWAS Ctlg | rs398122419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122419(T;T) |
Alt | rs398122419(T;T) |
Reference | Rs398122419(C;C) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 10 |
Variation | info |
Gene | MTO1 |
CLNDBN | Combined oxidative phosphorylation deficiency 10 |
Reversed | 0 |
HGVS | NC_000006.11:g.74190500C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074507.3, |