rs530213004
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs530213004(A;A) |
Make rs530213004(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 128325810 |
Gene | COQ4 |
is a | snp |
is | mentioned by |
dbSNP | rs530213004 |
dbSNP (classic) | rs530213004 |
ClinGen | rs530213004 |
ebi | rs530213004 |
HLI | rs530213004 |
Exac | rs530213004 |
Gnomad | rs530213004 |
Varsome | rs530213004 |
LitVar | rs530213004 |
Map | rs530213004 |
PheGenI | rs530213004 |
Biobank | rs530213004 |
1000 genomes | rs530213004 |
hgdp | rs530213004 |
ensembl | rs530213004 |
geneview | rs530213004 |
scholar | rs530213004 |
rs530213004 | |
pharmgkb | rs530213004 |
gwascentral | rs530213004 |
openSNP | rs530213004 |
23andMe | rs530213004 |
SNPshot | rs530213004 |
SNPdbe | rs530213004 |
MSV3d | rs530213004 |
GWAS Ctlg | rs530213004 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs530213004(A;A) rs530213004(C;C) rs530213004(T;T) |
Alt | rs530213004(A;A) rs530213004(C;C) rs530213004(T;T) |
Reference | Rs530213004(G;G) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ4 |
CLNDBN | Coenzyme Q10 deficiency, primary, 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.131088089G>T |
CLNSRC | |
CLNACC | RCV000477704.1, |