rs863223885
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863223885(-;G) |
Make rs863223885(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 226986637 |
Gene | ADCK3, COQ8A |
is a | snp |
is | mentioned by |
dbSNP | rs863223885 |
dbSNP (classic) | rs863223885 |
ClinGen | rs863223885 |
ebi | rs863223885 |
HLI | rs863223885 |
Exac | rs863223885 |
Gnomad | rs863223885 |
Varsome | rs863223885 |
LitVar | rs863223885 |
Map | rs863223885 |
PheGenI | rs863223885 |
Biobank | rs863223885 |
1000 genomes | rs863223885 |
hgdp | rs863223885 |
ensembl | rs863223885 |
geneview | rs863223885 |
scholar | rs863223885 |
rs863223885 | |
pharmgkb | rs863223885 |
gwascentral | rs863223885 |
openSNP | rs863223885 |
23andMe | rs863223885 |
SNPshot | rs863223885 |
SNPdbe | rs863223885 |
MSV3d | rs863223885 |
GWAS Ctlg | rs863223885 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223885(G;G) |
Alt | rs863223885(G;G) |
Reference | Rs863223885(-;-) |
Significance | Pathogenic |
Disease | not provided Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ8A ADCK3 |
CLNDBN | not provided Coenzyme Q10 deficiency, primary, 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.227174338dupG |
CLNSRC | |
CLNACC | RCV000195954.1, RCV000416393.1, |