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rs398124602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124602(A;A)
Make rs398124602(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position80273134
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124602
ebirs398124602
HLIrs398124602
Exacrs398124602
Varsomers398124602
Maprs398124602
PheGenIrs398124602
hapmaprs398124602
1000 genomesrs398124602
hgdprs398124602
ensemblrs398124602
gopubmedrs398124602
geneviewrs398124602
scholarrs398124602
googlers398124602
pharmgkbrs398124602
gwascentralrs398124602
openSNPrs398124602
23andMers398124602
23andMe allrs398124602
SNP Nexus

SNPshotrs398124602
SNPdbers398124602
MSV3drs398124602
GWAS Ctlgrs398124602
Max Magnitude0
ClinVar
Risk rs398124602(A;A)
Alt rs398124602(A;A)
Reference rs398124602(G;G)
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.80982851G>A
CLNSRC ClinVar
CLNACC RCV000082780.3, RCV000180714.1,