rs398123493
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398123493(A;A) |
Make rs398123493(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41424584 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs398123493 |
dbSNP (classic) | rs398123493 |
ClinGen | rs398123493 |
ebi | rs398123493 |
HLI | rs398123493 |
Exac | rs398123493 |
Gnomad | rs398123493 |
Varsome | rs398123493 |
LitVar | rs398123493 |
Map | rs398123493 |
PheGenI | rs398123493 |
Biobank | rs398123493 |
1000 genomes | rs398123493 |
hgdp | rs398123493 |
ensembl | rs398123493 |
geneview | rs398123493 |
scholar | rs398123493 |
rs398123493 | |
pharmgkb | rs398123493 |
gwascentral | rs398123493 |
openSNP | rs398123493 |
23andMe | rs398123493 |
SNPshot | rs398123493 |
SNPdbe | rs398123493 |
MSV3d | rs398123493 |
GWAS Ctlg | rs398123493 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123493(A;A) |
Alt | rs398123493(A;A) |
Reference | Rs398123493(C;C) |
Significance | Pathogenic |
Disease | not provided Maple syrup urine disease |
Variation | info |
Gene | BCKDHA |
CLNDBN | not provided Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000019.9:g.41930489C>A |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000079230.3, RCV000180521.1, |