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rs753698250

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs753698250(A;A)
Make rs753698250(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41422715
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs753698250
ebirs753698250
HLIrs753698250
Exacrs753698250
Varsomers753698250
Maprs753698250
PheGenIrs753698250
hapmaprs753698250
1000 genomesrs753698250
hgdprs753698250
ensemblrs753698250
gopubmedrs753698250
geneviewrs753698250
scholarrs753698250
googlers753698250
pharmgkbrs753698250
gwascentralrs753698250
openSNPrs753698250
23andMers753698250
23andMe allrs753698250
SNP Nexus

SNPshotrs753698250
SNPdbers753698250
MSV3drs753698250
GWAS Ctlgrs753698250
Max Magnitude0
ClinVar
Risk rs753698250(A,T;A,T)
Alt rs753698250(A,T;A,T)
Reference rs753698250(C;C)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41928620C>T
CLNSRC
CLNACC RCV000209887.1,