rs57443665
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs57443665(G;G) |
Make rs57443665(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 120737893 |
Gene | ACADS |
is a | snp |
is | mentioned by |
dbSNP | rs57443665 |
dbSNP (classic) | rs57443665 |
ClinGen | rs57443665 |
ebi | rs57443665 |
HLI | rs57443665 |
Exac | rs57443665 |
Gnomad | rs57443665 |
Varsome | rs57443665 |
LitVar | rs57443665 |
Map | rs57443665 |
PheGenI | rs57443665 |
Biobank | rs57443665 |
1000 genomes | rs57443665 |
hgdp | rs57443665 |
ensembl | rs57443665 |
geneview | rs57443665 |
scholar | rs57443665 |
rs57443665 | |
pharmgkb | rs57443665 |
gwascentral | rs57443665 |
openSNP | rs57443665 |
23andMe | rs57443665 |
SNPshot | rs57443665 |
SNPdbe | rs57443665 |
MSV3d | rs57443665 |
GWAS Ctlg | rs57443665 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57443665(C;C) rs57443665(G;G) |
Alt | rs57443665(C;C) rs57443665(G;G) |
Reference | Rs57443665(T;T) |
Significance | Other |
Disease | Deficiency of butyryl-CoA dehydrogenase not provided |
Variation | info |
Gene | ACADS |
CLNDBN | Deficiency of butyryl-CoA dehydrogenase not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.121175696T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004032.4, RCV000185684.2, |