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rs148905512

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148905512(C;T)
Make rs148905512(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position80168951
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs148905512
ebirs148905512
HLIrs148905512
Exacrs148905512
Varsomers148905512
Maprs148905512
PheGenIrs148905512
hapmaprs148905512
1000 genomesrs148905512
hgdprs148905512
ensemblrs148905512
gopubmedrs148905512
geneviewrs148905512
scholarrs148905512
googlers148905512
pharmgkbrs148905512
gwascentralrs148905512
openSNPrs148905512
23andMers148905512
23andMe allrs148905512
SNP Nexus

SNPshotrs148905512
SNPdbers148905512
MSV3drs148905512
GWAS Ctlgrs148905512
Max Magnitude0
ClinVar
Risk rs148905512(T;T)
Alt rs148905512(T;T)
Reference rs148905512(C;C)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80878668C>T
CLNSRC
CLNACC RCV000209747.1,