rs386834234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Maple Syrup Urine Disease Type 1B carrier |
(T;T) | 5 | Maple Syrup Urine Disease Type 1B |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 80343739 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs386834234 |
dbSNP (classic) | rs386834234 |
ClinGen | rs386834234 |
ebi | rs386834234 |
HLI | rs386834234 |
Exac | rs386834234 |
Gnomad | rs386834234 |
Varsome | rs386834234 |
LitVar | rs386834234 |
Map | rs386834234 |
PheGenI | rs386834234 |
Biobank | rs386834234 |
1000 genomes | rs386834234 |
hgdp | rs386834234 |
ensembl | rs386834234 |
geneview | rs386834234 |
scholar | rs386834234 |
rs386834234 | |
pharmgkb | rs386834234 |
gwascentral | rs386834234 |
openSNP | rs386834234 |
23andMe | rs386834234 |
SNPshot | rs386834234 |
SNPdbe | rs386834234 |
MSV3d | rs386834234 |
GWAS Ctlg | rs386834234 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs386834234(T;T) |
Alt | Rs386834234(T;T) |
Reference | Rs386834234(G;G) |
Significance | Other |
Disease | Maple syrup urine disease not provided |
Variation | info |
Gene | BCKDHB |
CLNDBN | Maple syrup urine disease not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.81053456G>T |
CLNSRC | GTR |
CLNACC | RCV000056007.2, RCV000082726.3, |