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rs863225262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225262(A;T)
Make rs863225262(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41424468
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs863225262
dbSNP (classic)rs863225262
ClinGenrs863225262
ebirs863225262
HLIrs863225262
Exacrs863225262
Gnomadrs863225262
Varsomers863225262
LitVarrs863225262
Maprs863225262
PheGenIrs863225262
Biobankrs863225262
1000 genomesrs863225262
hgdprs863225262
ensemblrs863225262
geneviewrs863225262
scholarrs863225262
googlers863225262
pharmgkbrs863225262
gwascentralrs863225262
openSNPrs863225262
23andMers863225262
SNPshotrs863225262
SNPdbers863225262
MSV3drs863225262
GWAS Ctlgrs863225262
Max Magnitude0
ClinVar
Risk rs863225262(T;T)
Alt rs863225262(T;T)
Reference Rs863225262(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.41930373A>T
CLNSRC Sir Ganga Ram Hospital
CLNACC RCV000202366.1,