rs374270071
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs374270071(A;G) |
Make rs374270071(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 73961761 |
Gene | COQ6, ENTPD5 |
is a | snp |
is | mentioned by |
dbSNP | rs374270071 |
dbSNP (classic) | rs374270071 |
ClinGen | rs374270071 |
ebi | rs374270071 |
HLI | rs374270071 |
Exac | rs374270071 |
Gnomad | rs374270071 |
Varsome | rs374270071 |
LitVar | rs374270071 |
Map | rs374270071 |
PheGenI | rs374270071 |
Biobank | rs374270071 |
1000 genomes | rs374270071 |
hgdp | rs374270071 |
ensembl | rs374270071 |
geneview | rs374270071 |
scholar | rs374270071 |
rs374270071 | |
pharmgkb | rs374270071 |
gwascentral | rs374270071 |
openSNP | rs374270071 |
23andMe | rs374270071 |
SNPshot | rs374270071 |
SNPdbe | rs374270071 |
MSV3d | rs374270071 |
GWAS Ctlg | rs374270071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374270071(G;G) |
Alt | rs374270071(G;G) |
Reference | Rs374270071(A;A) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | COQ6 ENTPD5 |
CLNDBN | Coenzyme Q10 deficiency, primary, 6 |
Reversed | 0 |
HGVS | NC_000014.8:g.74428464A>G |
CLNSRC | |
CLNACC | RCV000416384.1, |