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rs869312131

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312131(A;G)
Make rs869312131(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position80273147
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs869312131
ebirs869312131
HLIrs869312131
Exacrs869312131
Varsomers869312131
Maprs869312131
PheGenIrs869312131
hapmaprs869312131
1000 genomesrs869312131
hgdprs869312131
ensemblrs869312131
gopubmedrs869312131
geneviewrs869312131
scholarrs869312131
googlers869312131
pharmgkbrs869312131
gwascentralrs869312131
openSNPrs869312131
23andMers869312131
23andMe allrs869312131
SNP Nexus

SNPshotrs869312131
SNPdbers869312131
MSV3drs869312131
GWAS Ctlgrs869312131
Max Magnitude0
ClinVar
Risk rs869312131(G;G)
Alt rs869312131(G;G)
Reference rs869312131(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.80982864A>G
CLNSRC
CLNACC RCV000209523.1,