rs28940872
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28940872(C;T) |
Make rs28940872(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 120739356 |
Gene | ACADS |
is a | snp |
is | mentioned by |
dbSNP | rs28940872 |
dbSNP (classic) | rs28940872 |
ClinGen | rs28940872 |
ebi | rs28940872 |
HLI | rs28940872 |
Exac | rs28940872 |
Gnomad | rs28940872 |
Varsome | rs28940872 |
LitVar | rs28940872 |
Map | rs28940872 |
PheGenI | rs28940872 |
Biobank | rs28940872 |
1000 genomes | rs28940872 |
hgdp | rs28940872 |
ensembl | rs28940872 |
geneview | rs28940872 |
scholar | rs28940872 |
rs28940872 | |
pharmgkb | rs28940872 |
gwascentral | rs28940872 |
openSNP | rs28940872 |
23andMe | rs28940872 |
SNPshot | rs28940872 |
SNPdbe | rs28940872 |
MSV3d | rs28940872 |
GWAS Ctlg | rs28940872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28940872(T;T) |
Alt | rs28940872(T;T) |
Reference | Rs28940872(C;C) |
Significance | Pathogenic |
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.121177159C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004033.2, RCV000185700.2, |