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rs869312127

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312127(A;G)
Make rs869312127(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position80127545
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs869312127
ebirs869312127
HLIrs869312127
Exacrs869312127
Varsomers869312127
Maprs869312127
PheGenIrs869312127
hapmaprs869312127
1000 genomesrs869312127
hgdprs869312127
ensemblrs869312127
gopubmedrs869312127
geneviewrs869312127
scholarrs869312127
googlers869312127
pharmgkbrs869312127
gwascentralrs869312127
openSNPrs869312127
23andMers869312127
23andMe allrs869312127
SNP Nexus

SNPshotrs869312127
SNPdbers869312127
MSV3drs869312127
GWAS Ctlgrs869312127
Max Magnitude0
ClinVar
Risk rs869312127(G;G)
Alt rs869312127(G;G)
Reference rs869312127(A;A)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80837262A>G
CLNSRC
CLNACC RCV000209460.1,