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rs398124603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124603(C;T)
Make rs398124603(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80273153
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124603
dbSNP (classic)rs398124603
ClinGenrs398124603
ebirs398124603
HLIrs398124603
Exacrs398124603
Gnomadrs398124603
Varsomers398124603
LitVarrs398124603
Maprs398124603
PheGenIrs398124603
Biobankrs398124603
1000 genomesrs398124603
hgdprs398124603
ensemblrs398124603
geneviewrs398124603
scholarrs398124603
googlers398124603
pharmgkbrs398124603
gwascentralrs398124603
openSNPrs398124603
23andMers398124603
SNPshotrs398124603
SNPdbers398124603
MSV3drs398124603
GWAS Ctlgrs398124603
Max Magnitude0
ClinVar
Risk rs398124603(T;T)
Alt rs398124603(T;T)
Reference Rs398124603(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.80982870C>T
CLNSRC HGMD
CLNACC RCV000082781.3, RCV000169351.3,