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rs398124582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398124582(A;T)
Make rs398124582(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80168923
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124582
ebirs398124582
HLIrs398124582
Exacrs398124582
Varsomers398124582
Maprs398124582
PheGenIrs398124582
hapmaprs398124582
1000 genomesrs398124582
hgdprs398124582
ensemblrs398124582
gopubmedrs398124582
geneviewrs398124582
scholarrs398124582
googlers398124582
pharmgkbrs398124582
gwascentralrs398124582
openSNPrs398124582
23andMers398124582
23andMe allrs398124582
SNP Nexus

SNPshotrs398124582
SNPdbers398124582
MSV3drs398124582
GWAS Ctlgrs398124582
Max Magnitude0
ClinVar
Risk rs398124582(T;T)
Alt rs398124582(T;T)
Reference rs398124582(A;A)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80878640A>T
CLNSRC HGMD
CLNACC RCV000082751.3, RCV000179049.1,