rs750710187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs750710187(-;-) |
Make rs750710187(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 83264268 |
Gene | COQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs750710187 |
dbSNP (classic) | rs750710187 |
ClinGen | rs750710187 |
ebi | rs750710187 |
HLI | rs750710187 |
Exac | rs750710187 |
Gnomad | rs750710187 |
Varsome | rs750710187 |
LitVar | rs750710187 |
Map | rs750710187 |
PheGenI | rs750710187 |
Biobank | rs750710187 |
1000 genomes | rs750710187 |
hgdp | rs750710187 |
ensembl | rs750710187 |
geneview | rs750710187 |
scholar | rs750710187 |
rs750710187 | |
pharmgkb | rs750710187 |
gwascentral | rs750710187 |
openSNP | rs750710187 |
23andMe | rs750710187 |
SNPshot | rs750710187 |
SNPdbe | rs750710187 |
MSV3d | rs750710187 |
GWAS Ctlg | rs750710187 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750710187(-;-) |
Alt | rs750710187(-;-) |
Reference | Rs750710187(A;A) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ2 |
CLNDBN | Coenzyme Q10 deficiency, primary |
Reversed | 0 |
HGVS | NC_000004.11:g.84185421delA |
CLNSRC | |
CLNACC | RCV000416389.1, |