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rs869312126

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312126(G;G)
Make rs869312126(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position80129179
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs869312126
ebirs869312126
HLIrs869312126
Exacrs869312126
Varsomers869312126
Maprs869312126
PheGenIrs869312126
hapmaprs869312126
1000 genomesrs869312126
hgdprs869312126
ensemblrs869312126
gopubmedrs869312126
geneviewrs869312126
scholarrs869312126
googlers869312126
pharmgkbrs869312126
gwascentralrs869312126
openSNPrs869312126
23andMers869312126
23andMe allrs869312126
SNP Nexus

SNPshotrs869312126
SNPdbers869312126
MSV3drs869312126
GWAS Ctlgrs869312126
Max Magnitude0
ClinVar
Risk rs869312126(G;G)
Alt rs869312126(G;G)
Reference rs869312126(T;T)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80838896T>G
CLNSRC
CLNACC RCV000209422.1,