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rs398124596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124596(G;G)
Make rs398124596(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80201033
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124596
ebirs398124596
HLIrs398124596
Exacrs398124596
Varsomers398124596
Maprs398124596
PheGenIrs398124596
hapmaprs398124596
1000 genomesrs398124596
hgdprs398124596
ensemblrs398124596
gopubmedrs398124596
geneviewrs398124596
scholarrs398124596
googlers398124596
pharmgkbrs398124596
gwascentralrs398124596
openSNPrs398124596
23andMers398124596
23andMe allrs398124596
SNP Nexus

SNPshotrs398124596
SNPdbers398124596
MSV3drs398124596
GWAS Ctlgrs398124596
Max Magnitude0
ClinVar
Risk rs398124596(G;G)
Alt rs398124596(G;G)
Reference rs398124596(T;T)
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.80910750T>G
CLNSRC ClinVar
CLNACC RCV000082771.3, RCV000180019.1,