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rs869312125

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312125(A;C)
Make rs869312125(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41414143
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs869312125
ebirs869312125
HLIrs869312125
Exacrs869312125
Varsomers869312125
Maprs869312125
PheGenIrs869312125
hapmaprs869312125
1000 genomesrs869312125
hgdprs869312125
ensemblrs869312125
gopubmedrs869312125
geneviewrs869312125
scholarrs869312125
googlers869312125
pharmgkbrs869312125
gwascentralrs869312125
openSNPrs869312125
23andMers869312125
23andMe allrs869312125
SNP Nexus

SNPshotrs869312125
SNPdbers869312125
MSV3drs869312125
GWAS Ctlgrs869312125
Max Magnitude0
ClinVar
Risk rs869312125(C;C)
Alt rs869312125(C;C)
Reference rs869312125(A;A)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41920048A>C
CLNSRC
CLNACC RCV000209796.1,