rs398123074
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398123074(C;C) |
Make rs398123074(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 75732869 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs398123074 |
dbSNP (classic) | rs398123074 |
ClinGen | rs398123074 |
ebi | rs398123074 |
HLI | rs398123074 |
Exac | rs398123074 |
Gnomad | rs398123074 |
Varsome | rs398123074 |
LitVar | rs398123074 |
Map | rs398123074 |
PheGenI | rs398123074 |
Biobank | rs398123074 |
1000 genomes | rs398123074 |
hgdp | rs398123074 |
ensembl | rs398123074 |
geneview | rs398123074 |
scholar | rs398123074 |
rs398123074 | |
pharmgkb | rs398123074 |
gwascentral | rs398123074 |
openSNP | rs398123074 |
23andMe | rs398123074 |
SNPshot | rs398123074 |
SNPdbe | rs398123074 |
MSV3d | rs398123074 |
GWAS Ctlg | rs398123074 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123074(C;C) |
Alt | rs398123074(C;C) |
Reference | Rs398123074(T;T) |
Significance | Pathogenic |
Disease | not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Variation | info |
Gene | ACADM |
CLNDBN | not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.76198554T>C |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000077885.4, RCV000178019.1, |