rs796051938
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CGTA;CGTA) | 0 | common in clinvar |
Make rs796051938(-;-) |
Make rs796051938(-;TACG) |
Make rs796051938(TACG;TACG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 41422178 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs796051938 |
dbSNP (classic) | rs796051938 |
ClinGen | rs796051938 |
ebi | rs796051938 |
HLI | rs796051938 |
Exac | rs796051938 |
Gnomad | rs796051938 |
Varsome | rs796051938 |
LitVar | rs796051938 |
Map | rs796051938 |
PheGenI | rs796051938 |
Biobank | rs796051938 |
1000 genomes | rs796051938 |
hgdp | rs796051938 |
ensembl | rs796051938 |
geneview | rs796051938 |
scholar | rs796051938 |
rs796051938 | |
pharmgkb | rs796051938 |
gwascentral | rs796051938 |
openSNP | rs796051938 |
23andMe | rs796051938 |
SNPshot | rs796051938 |
SNPdbe | rs796051938 |
MSV3d | rs796051938 |
GWAS Ctlg | rs796051938 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051938(-;-) |
Alt | rs796051938(-;-) |
Reference | Rs796051938(CGTA;CGTA) |
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.41928083_41928086delTACG |
CLNSRC | |
CLNACC | RCV000185796.1, RCV000408793.1, |