rs267606613
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606613(A;A) |
Make rs267606613(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 9952 |
Gene | COX3 |
is a | snp |
is | mentioned by |
dbSNP | rs267606613 |
dbSNP (classic) | rs267606613 |
ClinGen | rs267606613 |
ebi | rs267606613 |
HLI | rs267606613 |
Exac | rs267606613 |
Gnomad | rs267606613 |
Varsome | rs267606613 |
LitVar | rs267606613 |
Map | rs267606613 |
PheGenI | rs267606613 |
Biobank | rs267606613 |
1000 genomes | rs267606613 |
hgdp | rs267606613 |
ensembl | rs267606613 |
geneview | rs267606613 |
scholar | rs267606613 |
rs267606613 | |
pharmgkb | rs267606613 |
gwascentral | rs267606613 |
openSNP | rs267606613 |
23andMe | rs267606613 |
SNPshot | rs267606613 |
SNPdbe | rs267606613 |
MSV3d | rs267606613 |
GWAS Ctlg | rs267606613 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606613(A;A) |
Alt | rs267606613(A;A) |
Reference | Rs267606613(G;G) |
Significance | Pathogenic |
Disease | Cytochrome-c oxidase deficiency |
Variation | info |
Gene | COX3 |
CLNDBN | Cytochrome-c oxidase deficiency |
Reversed | 0 |
HGVS | NC_012920.1:m.9952G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010291.2, |