Have questions? Visit https://www.reddit.com/r/SNPedia

rs869312129

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312129(-;-)
Make rs869312129(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position80343690
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs869312129
ebirs869312129
HLIrs869312129
Exacrs869312129
Varsomers869312129
Maprs869312129
PheGenIrs869312129
hapmaprs869312129
1000 genomesrs869312129
hgdprs869312129
ensemblrs869312129
gopubmedrs869312129
geneviewrs869312129
scholarrs869312129
googlers869312129
pharmgkbrs869312129
gwascentralrs869312129
openSNPrs869312129
23andMers869312129
23andMe allrs869312129
SNP Nexus

SNPshotrs869312129
SNPdbers869312129
MSV3drs869312129
GWAS Ctlgrs869312129
Max Magnitude0
ClinVar
Risk rs869312129(;)
Alt rs869312129(;)
Reference rs869312129(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.81053407delT
CLNSRC
CLNACC RCV000209501.1,