rs773048903
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs773048903(A;A) |
Make rs773048903(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 41414149 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs773048903 |
dbSNP (classic) | rs773048903 |
ClinGen | rs773048903 |
ebi | rs773048903 |
HLI | rs773048903 |
Exac | rs773048903 |
Gnomad | rs773048903 |
Varsome | rs773048903 |
LitVar | rs773048903 |
Map | rs773048903 |
PheGenI | rs773048903 |
Biobank | rs773048903 |
1000 genomes | rs773048903 |
hgdp | rs773048903 |
ensembl | rs773048903 |
geneview | rs773048903 |
scholar | rs773048903 |
rs773048903 | |
pharmgkb | rs773048903 |
gwascentral | rs773048903 |
openSNP | rs773048903 |
23andMe | rs773048903 |
SNPshot | rs773048903 |
SNPdbe | rs773048903 |
MSV3d | rs773048903 |
GWAS Ctlg | rs773048903 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773048903(A;A) |
Alt | rs773048903(A;A) |
Reference | Rs773048903(G;G) |
Significance | Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | BCKDHA |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000019.9:g.41920054G>A |
CLNSRC | |
CLNACC | RCV000209016.1, |