rs797045217
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5.6 | Coenzyme Q10 Deficiency; severity varies |
(-;CA) | 3 | Carrier of a coenzyme Q10 deficiency mutation |
(CA;CA) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 226984171 |
Gene | ADCK3, COQ8A |
is a | snp |
is | mentioned by |
dbSNP | rs797045217 |
dbSNP (classic) | rs797045217 |
ClinGen | rs797045217 |
ebi | rs797045217 |
HLI | rs797045217 |
Exac | rs797045217 |
Gnomad | rs797045217 |
Varsome | rs797045217 |
LitVar | rs797045217 |
Map | rs797045217 |
PheGenI | rs797045217 |
Biobank | rs797045217 |
1000 genomes | rs797045217 |
hgdp | rs797045217 |
ensembl | rs797045217 |
geneview | rs797045217 |
scholar | rs797045217 |
rs797045217 | |
pharmgkb | rs797045217 |
gwascentral | rs797045217 |
openSNP | rs797045217 |
23andMe | rs797045217 |
SNPshot | rs797045217 |
SNPdbe | rs797045217 |
MSV3d | rs797045217 |
GWAS Ctlg | rs797045217 |
Max Magnitude | 5.6 |
ClinVar | |
---|---|
Risk | Rs797045217(-;-) |
Alt | Rs797045217(-;-) |
Reference | Rs797045217(CA;CA) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ8A ADCK3 |
CLNDBN | Coenzyme Q10 deficiency, primary, 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.227171872_227171873delCA |
CLNSRC | |
CLNACC | RCV000193346.1, |