rs886040973
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs886040973(AA;AA) |
Make rs886040973(AA;GC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 128323142 |
Gene | COQ4, TRUB2 |
is a | snp |
is | mentioned by |
dbSNP | rs886040973 |
dbSNP (classic) | rs886040973 |
ClinGen | rs886040973 |
ebi | rs886040973 |
HLI | rs886040973 |
Exac | rs886040973 |
Gnomad | rs886040973 |
Varsome | rs886040973 |
LitVar | rs886040973 |
Map | rs886040973 |
PheGenI | rs886040973 |
Biobank | rs886040973 |
1000 genomes | rs886040973 |
hgdp | rs886040973 |
ensembl | rs886040973 |
geneview | rs886040973 |
scholar | rs886040973 |
rs886040973 | |
pharmgkb | rs886040973 |
gwascentral | rs886040973 |
openSNP | rs886040973 |
23andMe | rs886040973 |
SNPshot | rs886040973 |
SNPdbe | rs886040973 |
MSV3d | rs886040973 |
GWAS Ctlg | rs886040973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886040973(AA;AA) |
Alt | rs886040973(AA;AA) |
Reference | Rs886040973(GC;GC) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ4 TRUB2 |
CLNDBN | Coenzyme Q10 deficiency, primary, 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.131085421_131085422delGCinsAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000258060.2, |