Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834234

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position80343739
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs386834234
ebirs386834234
HLIrs386834234
Exacrs386834234
Varsomers386834234
Maprs386834234
PheGenIrs386834234
hapmaprs386834234
1000 genomesrs386834234
hgdprs386834234
ensemblrs386834234
gopubmedrs386834234
geneviewrs386834234
scholarrs386834234
googlers386834234
pharmgkbrs386834234
gwascentralrs386834234
openSNPrs386834234
23andMers386834234
23andMe allrs386834234
SNP Nexus

SNPshotrs386834234
SNPdbers386834234
MSV3drs386834234
GWAS Ctlgrs386834234
Max Magnitude5
ClinVar
Risk rs386834234(T;T)
Alt rs386834234(T;T)
Reference rs386834234(G;G)
Significance Pathogenic
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,