rs776631396
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs776631396(C;T) |
Make rs776631396(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 80167744 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs776631396 |
dbSNP (classic) | rs776631396 |
ClinGen | rs776631396 |
ebi | rs776631396 |
HLI | rs776631396 |
Exac | rs776631396 |
Gnomad | rs776631396 |
Varsome | rs776631396 |
LitVar | rs776631396 |
Map | rs776631396 |
PheGenI | rs776631396 |
Biobank | rs776631396 |
1000 genomes | rs776631396 |
hgdp | rs776631396 |
ensembl | rs776631396 |
geneview | rs776631396 |
scholar | rs776631396 |
rs776631396 | |
pharmgkb | rs776631396 |
gwascentral | rs776631396 |
openSNP | rs776631396 |
23andMe | rs776631396 |
SNPshot | rs776631396 |
SNPdbe | rs776631396 |
MSV3d | rs776631396 |
GWAS Ctlg | rs776631396 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776631396(T;T) |
Alt | rs776631396(T;T) |
Reference | Rs776631396(C;C) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | BCKDHB |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000006.11:g.80877461C>T |
CLNSRC | |
CLNACC | RCV000410485.1, |