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rs398124587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs398124587(-;-)
Make rs398124587(-;AG)
ReferenceGRCh38 38.1/141
Chromosome6
Position80168992
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124587
ebirs398124587
HLIrs398124587
Exacrs398124587
Varsomers398124587
Maprs398124587
PheGenIrs398124587
hapmaprs398124587
1000 genomesrs398124587
hgdprs398124587
ensemblrs398124587
gopubmedrs398124587
geneviewrs398124587
scholarrs398124587
googlers398124587
pharmgkbrs398124587
gwascentralrs398124587
openSNPrs398124587
23andMers398124587
23andMe allrs398124587
SNP Nexus

SNPshotrs398124587
SNPdbers398124587
MSV3drs398124587
GWAS Ctlgrs398124587
Max Magnitude0
ClinVar
Risk rs398124587(;)
Alt rs398124587(;)
Reference rs398124587(AG;AG)
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.80878709_80878710delAG
CLNSRC HGMD
CLNACC RCV000082758.3, RCV000179041.1,