rs762616589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs762616589(A;A) |
Make rs762616589(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 83269867 |
Gene | COQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs762616589 |
dbSNP (classic) | rs762616589 |
ClinGen | rs762616589 |
ebi | rs762616589 |
HLI | rs762616589 |
Exac | rs762616589 |
Gnomad | rs762616589 |
Varsome | rs762616589 |
LitVar | rs762616589 |
Map | rs762616589 |
PheGenI | rs762616589 |
Biobank | rs762616589 |
1000 genomes | rs762616589 |
hgdp | rs762616589 |
ensembl | rs762616589 |
geneview | rs762616589 |
scholar | rs762616589 |
rs762616589 | |
pharmgkb | rs762616589 |
gwascentral | rs762616589 |
openSNP | rs762616589 |
23andMe | rs762616589 |
SNPshot | rs762616589 |
SNPdbe | rs762616589 |
MSV3d | rs762616589 |
GWAS Ctlg | rs762616589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762616589(A;A) rs762616589(C;C) |
Alt | rs762616589(A;A) rs762616589(C;C) |
Reference | Rs762616589(G;G) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ2 |
CLNDBN | Coenzyme Q10 deficiency, primary |
Reversed | 0 |
HGVS | NC_000004.11:g.84191020G>A |
CLNSRC | |
CLNACC | RCV000416400.1, |