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rs796051939

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs796051939(A;A)
Make rs796051939(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position80273205
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs796051939
ebirs796051939
HLIrs796051939
Exacrs796051939
Varsomers796051939
Maprs796051939
PheGenIrs796051939
hapmaprs796051939
1000 genomesrs796051939
hgdprs796051939
ensemblrs796051939
gopubmedrs796051939
geneviewrs796051939
scholarrs796051939
googlers796051939
pharmgkbrs796051939
gwascentralrs796051939
openSNPrs796051939
23andMers796051939
23andMe allrs796051939
SNP Nexus

SNPshotrs796051939
SNPdbers796051939
MSV3drs796051939
GWAS Ctlgrs796051939
Max Magnitude0
ClinVar
Risk rs796051939(A;A)
Alt rs796051939(A;A)
Reference rs796051939(T;T)
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.80982922T>A
CLNSRC
CLNACC RCV000185797.2, RCV000209023.1,