rs566325901
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs566325901(A;G) |
Make rs566325901(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 120739317 |
Gene | ACADS |
is a | snp |
is | mentioned by |
dbSNP | rs566325901 |
dbSNP (classic) | rs566325901 |
ClinGen | rs566325901 |
ebi | rs566325901 |
HLI | rs566325901 |
Exac | rs566325901 |
Gnomad | rs566325901 |
Varsome | rs566325901 |
LitVar | rs566325901 |
Map | rs566325901 |
PheGenI | rs566325901 |
Biobank | rs566325901 |
1000 genomes | rs566325901 |
hgdp | rs566325901 |
ensembl | rs566325901 |
geneview | rs566325901 |
scholar | rs566325901 |
rs566325901 | |
pharmgkb | rs566325901 |
gwascentral | rs566325901 |
openSNP | rs566325901 |
23andMe | rs566325901 |
SNPshot | rs566325901 |
SNPdbe | rs566325901 |
MSV3d | rs566325901 |
GWAS Ctlg | rs566325901 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs566325901(G;G) |
Alt | rs566325901(G;G) |
Reference | Rs566325901(A;A) |
Significance | Pathogenic |
Disease | not specified Deficiency of butyryl-CoA dehydrogenase |
Variation | info |
Gene | ACADS |
CLNDBN | not specified Deficiency of butyryl-CoA dehydrogenase |
Reversed | 0 |
HGVS | NC_000012.11:g.121177120A>G |
CLNSRC | |
CLNACC | RCV000185696.2, RCV000301353.1, |