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rs1057519059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519059(AA;AA)
Make rs1057519059(AA;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position41414072
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs1057519059
dbSNP (old)rs1057519059
ClinGenrs1057519059
ebirs1057519059
HLIrs1057519059
Exacrs1057519059
Gnomadrs1057519059
Varsomers1057519059
LitVarrs1057519059
Maprs1057519059
PheGenIrs1057519059
Biobankrs1057519059
1000 genomesrs1057519059
hgdprs1057519059
ensemblrs1057519059
gopubmedrs1057519059
geneviewrs1057519059
scholarrs1057519059
googlers1057519059
pharmgkbrs1057519059
gwascentralrs1057519059
openSNPrs1057519059
23andMers1057519059
23andMe allrs1057519059
SNPshotrs1057519059
SNPdbers1057519059
MSV3drs1057519059
GWAS Ctlgrs1057519059
Max Magnitude0
ClinVar
Risk rs1057519059(AA;AA)
Alt rs1057519059(AA;AA)
Reference Rs1057519059(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.41919977delCinsAA
CLNSRC
CLNACC RCV000415547.1,