rs758522459
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs758522459(C;C) |
Make rs758522459(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 128323147 |
Gene | COQ4, TRUB2 |
is a | snp |
is | mentioned by |
dbSNP | rs758522459 |
dbSNP (classic) | rs758522459 |
ClinGen | rs758522459 |
ebi | rs758522459 |
HLI | rs758522459 |
Exac | rs758522459 |
Gnomad | rs758522459 |
Varsome | rs758522459 |
LitVar | rs758522459 |
Map | rs758522459 |
PheGenI | rs758522459 |
Biobank | rs758522459 |
1000 genomes | rs758522459 |
hgdp | rs758522459 |
ensembl | rs758522459 |
geneview | rs758522459 |
scholar | rs758522459 |
rs758522459 | |
pharmgkb | rs758522459 |
gwascentral | rs758522459 |
openSNP | rs758522459 |
23andMe | rs758522459 |
SNPshot | rs758522459 |
SNPdbe | rs758522459 |
MSV3d | rs758522459 |
GWAS Ctlg | rs758522459 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758522459(C;C) |
Alt | rs758522459(C;C) |
Reference | Rs758522459(G;G) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ4 TRUB2 |
CLNDBN | Coenzyme Q10 deficiency, primary, 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.131085426G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000258061.2, |