rs786204771
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5.6 | Coenzyme Q10 Deficiency; severity varies |
(-;CCA) | 3 | Carrier of a coenzyme Q10 deficiency mutation |
(CCA;CCA) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 128332271 |
Gene | COQ4 |
is a | snp |
is | mentioned by |
dbSNP | rs786204771 |
dbSNP (classic) | rs786204771 |
ClinGen | rs786204771 |
ebi | rs786204771 |
HLI | rs786204771 |
Exac | rs786204771 |
Gnomad | rs786204771 |
Varsome | rs786204771 |
LitVar | rs786204771 |
Map | rs786204771 |
PheGenI | rs786204771 |
Biobank | rs786204771 |
1000 genomes | rs786204771 |
hgdp | rs786204771 |
ensembl | rs786204771 |
geneview | rs786204771 |
scholar | rs786204771 |
rs786204771 | |
pharmgkb | rs786204771 |
gwascentral | rs786204771 |
openSNP | rs786204771 |
23andMe | rs786204771 |
SNPshot | rs786204771 |
SNPdbe | rs786204771 |
MSV3d | rs786204771 |
GWAS Ctlg | rs786204771 |
Max Magnitude | 5.6 |
ClinVar | |
---|---|
Risk | Rs786204771(-;-) |
Alt | Rs786204771(-;-) |
Reference | Rs786204771(CCA;CCA) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ4 |
CLNDBN | Coenzyme Q10 deficiency, primary, 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.131094550_131094552delCCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169638.5, |