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rs398124598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124598(C;T)
Make rs398124598(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80203114
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124598
ebirs398124598
HLIrs398124598
Exacrs398124598
Varsomers398124598
Maprs398124598
PheGenIrs398124598
hapmaprs398124598
1000 genomesrs398124598
hgdprs398124598
ensemblrs398124598
gopubmedrs398124598
geneviewrs398124598
scholarrs398124598
googlers398124598
pharmgkbrs398124598
gwascentralrs398124598
openSNPrs398124598
23andMers398124598
23andMe allrs398124598
SNP Nexus

SNPshotrs398124598
SNPdbers398124598
MSV3drs398124598
GWAS Ctlgrs398124598
Max Magnitude0
ClinVar
Risk rs398124598(T;T)
Alt rs398124598(T;T)
Reference rs398124598(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.80912831C>T
CLNSRC HGMD
CLNACC RCV000082775.3, RCV000169304.2,