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rs869312130

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312130(A;A)
Make rs869312130(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position80167735
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs869312130
ebirs869312130
HLIrs869312130
Exacrs869312130
Varsomers869312130
Maprs869312130
PheGenIrs869312130
hapmaprs869312130
1000 genomesrs869312130
hgdprs869312130
ensemblrs869312130
gopubmedrs869312130
geneviewrs869312130
scholarrs869312130
googlers869312130
pharmgkbrs869312130
gwascentralrs869312130
openSNPrs869312130
23andMers869312130
23andMe allrs869312130
SNP Nexus

SNPshotrs869312130
SNPdbers869312130
MSV3drs869312130
GWAS Ctlgrs869312130
Max Magnitude0
ClinVar
Risk rs869312130(A;A)
Alt rs869312130(A;A)
Reference rs869312130(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.80877452T>A
CLNSRC
CLNACC RCV000209826.1,