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rs398124562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124562(A;A)
Make rs398124562(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position80343671
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124562
ebirs398124562
HLIrs398124562
Exacrs398124562
Varsomers398124562
Maprs398124562
PheGenIrs398124562
hapmaprs398124562
1000 genomesrs398124562
hgdprs398124562
ensemblrs398124562
gopubmedrs398124562
geneviewrs398124562
scholarrs398124562
googlers398124562
pharmgkbrs398124562
gwascentralrs398124562
openSNPrs398124562
23andMers398124562
23andMe allrs398124562
SNP Nexus

SNPshotrs398124562
SNPdbers398124562
MSV3drs398124562
GWAS Ctlgrs398124562
Max Magnitude0
ClinVar
Risk rs398124562(A;A)
Alt rs398124562(A;A)
Reference rs398124562(G;G)
Significance Probable-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.81053388G>A
CLNSRC HGMD
CLNACC RCV000082721.3, RCV000173927.1,