rs137852876
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852876(C;G) |
Make rs137852876(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41422309 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs137852876 |
dbSNP (classic) | rs137852876 |
ClinGen | rs137852876 |
ebi | rs137852876 |
HLI | rs137852876 |
Exac | rs137852876 |
Gnomad | rs137852876 |
Varsome | rs137852876 |
LitVar | rs137852876 |
Map | rs137852876 |
PheGenI | rs137852876 |
Biobank | rs137852876 |
1000 genomes | rs137852876 |
hgdp | rs137852876 |
ensembl | rs137852876 |
geneview | rs137852876 |
scholar | rs137852876 |
rs137852876 | |
pharmgkb | rs137852876 |
gwascentral | rs137852876 |
openSNP | rs137852876 |
23andMe | rs137852876 |
SNPshot | rs137852876 |
SNPdbe | rs137852876 |
MSV3d | rs137852876 |
GWAS Ctlg | rs137852876 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852876(G;G) |
Alt | rs137852876(G;G) |
Reference | Rs137852876(C;C) |
Significance | Pathogenic |
Disease | Maple syrup urine disease type 1A |
Variation | info |
Gene | BCKDHA |
CLNDBN | Maple syrup urine disease type 1A |
Reversed | 0 |
HGVS | NC_000019.9:g.41928214C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002481.3, |