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rs121965005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965005(G;G)
Make rs121965005(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80167690
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs121965005
ebirs121965005
HLIrs121965005
Exacrs121965005
Varsomers121965005
Maprs121965005
PheGenIrs121965005
hapmaprs121965005
1000 genomesrs121965005
hgdprs121965005
ensemblrs121965005
gopubmedrs121965005
geneviewrs121965005
scholarrs121965005
googlers121965005
pharmgkbrs121965005
gwascentralrs121965005
openSNPrs121965005
23andMers121965005
23andMe allrs121965005
SNP Nexus

SNPshotrs121965005
SNPdbers121965005
MSV3drs121965005
GWAS Ctlgrs121965005
Max Magnitude0
OMIM248611
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121965005(G;G)
Alt rs121965005(G;G)
Reference rs121965005(T;T)
Significance Pathogenic
Disease MAPLE SYRUP URINE DISEASE
Variation info
Gene BCKDHB
CLNDBN MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
Reversed 0
HGVS NC_000006.11:g.80877407T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012717.23,