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rs121965004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965004(C;T)
Make rs121965004(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80169013
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs121965004
ebirs121965004
HLIrs121965004
Exacrs121965004
Varsomers121965004
Maprs121965004
PheGenIrs121965004
hapmaprs121965004
1000 genomesrs121965004
hgdprs121965004
ensemblrs121965004
gopubmedrs121965004
geneviewrs121965004
scholarrs121965004
googlers121965004
pharmgkbrs121965004
gwascentralrs121965004
openSNPrs121965004
23andMers121965004
23andMe allrs121965004
SNP Nexus

SNPshotrs121965004
SNPdbers121965004
MSV3drs121965004
GWAS Ctlgrs121965004
Max Magnitude0
OMIM248611
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121965004(T;T)
Alt rs121965004(T;T)
Reference rs121965004(C;C)
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.80878730C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012716.25,