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rs398124594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124594(C;T)
Make rs398124594(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80200990
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124594
ebirs398124594
HLIrs398124594
Exacrs398124594
Varsomers398124594
Maprs398124594
PheGenIrs398124594
hapmaprs398124594
1000 genomesrs398124594
hgdprs398124594
ensemblrs398124594
gopubmedrs398124594
geneviewrs398124594
scholarrs398124594
googlers398124594
pharmgkbrs398124594
gwascentralrs398124594
openSNPrs398124594
23andMers398124594
23andMe allrs398124594
SNP Nexus

SNPshotrs398124594
SNPdbers398124594
MSV3drs398124594
GWAS Ctlgrs398124594
Max Magnitude0
ClinVar
Risk rs398124594(G,T;G,T)
Alt rs398124594(G,T;G,T)
Reference rs398124594(C;C)
Significance Other
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.80910707C>T
CLNSRC HGMD
CLNACC RCV000082768.4, RCV000169389.2,