rs376456598
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs376456598(A;A) |
Make rs376456598(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 41410665 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs376456598 |
dbSNP (classic) | rs376456598 |
ClinGen | rs376456598 |
ebi | rs376456598 |
HLI | rs376456598 |
Exac | rs376456598 |
Gnomad | rs376456598 |
Varsome | rs376456598 |
LitVar | rs376456598 |
Map | rs376456598 |
PheGenI | rs376456598 |
Biobank | rs376456598 |
1000 genomes | rs376456598 |
hgdp | rs376456598 |
ensembl | rs376456598 |
geneview | rs376456598 |
scholar | rs376456598 |
rs376456598 | |
pharmgkb | rs376456598 |
gwascentral | rs376456598 |
openSNP | rs376456598 |
23andMe | rs376456598 |
SNPshot | rs376456598 |
SNPdbe | rs376456598 |
MSV3d | rs376456598 |
GWAS Ctlg | rs376456598 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376456598(A;A) |
Alt | rs376456598(A;A) |
Reference | Rs376456598(C;C) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | BCKDHA |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000019.9:g.41916570C>A |
CLNSRC | |
CLNACC | RCV000409408.1, |