rs137852872
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137852872(G;G) |
Make rs137852872(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41424496 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs137852872 |
dbSNP (classic) | rs137852872 |
ClinGen | rs137852872 |
ebi | rs137852872 |
HLI | rs137852872 |
Exac | rs137852872 |
Gnomad | rs137852872 |
Varsome | rs137852872 |
LitVar | rs137852872 |
Map | rs137852872 |
PheGenI | rs137852872 |
Biobank | rs137852872 |
1000 genomes | rs137852872 |
hgdp | rs137852872 |
ensembl | rs137852872 |
geneview | rs137852872 |
scholar | rs137852872 |
rs137852872 | |
pharmgkb | rs137852872 |
gwascentral | rs137852872 |
openSNP | rs137852872 |
23andMe | rs137852872 |
SNPshot | rs137852872 |
SNPdbe | rs137852872 |
MSV3d | rs137852872 |
GWAS Ctlg | rs137852872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852872(G;G) |
Alt | rs137852872(G;G) |
Reference | Rs137852872(T;T) |
Significance | Pathogenic |
Disease | MAPLE SYRUP URINE DISEASE Maple syrup urine disease type 1A |
Variation | info |
Gene | BCKDHA |
CLNDBN | MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA Maple syrup urine disease type 1A |
Reversed | 0 |
HGVS | NC_000019.9:g.41930401T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002476.3, RCV000002477.3, |