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rs386834233

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Maple Syrup Urine Disease Type 1B
(A;G) 3 Maple Syrup Urine Disease Type 1B carrier
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position80201023
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs386834233
ebirs386834233
HLIrs386834233
Exacrs386834233
Varsomers386834233
Maprs386834233
PheGenIrs386834233
hapmaprs386834233
1000 genomesrs386834233
hgdprs386834233
ensemblrs386834233
gopubmedrs386834233
geneviewrs386834233
scholarrs386834233
googlers386834233
pharmgkbrs386834233
gwascentralrs386834233
openSNPrs386834233
23andMers386834233
23andMe allrs386834233
SNP Nexus

SNPshotrs386834233
SNPdbers386834233
MSV3drs386834233
GWAS Ctlgrs386834233
Max Magnitude5
ClinVar
Risk rs386834233(A;A)
Alt rs386834233(A;A)
Reference rs386834233(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.80910740G>A
CLNSRC HGMD
CLNACC RCV000056009.2, RCV000082770.3,