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rs1057517124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517124(-;-)
Make rs1057517124(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position80203114
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs1057517124
dbSNP (old)rs1057517124
ClinGenrs1057517124
ebirs1057517124
HLIrs1057517124
Exacrs1057517124
Gnomadrs1057517124
Varsomers1057517124
LitVarrs1057517124
Maprs1057517124
PheGenIrs1057517124
Biobankrs1057517124
1000 genomesrs1057517124
hgdprs1057517124
ensemblrs1057517124
gopubmedrs1057517124
geneviewrs1057517124
scholarrs1057517124
googlers1057517124
pharmgkbrs1057517124
gwascentralrs1057517124
openSNPrs1057517124
23andMers1057517124
23andMe allrs1057517124
SNPshotrs1057517124
SNPdbers1057517124
MSV3drs1057517124
GWAS Ctlgrs1057517124
Max Magnitude0
ClinVar
Risk rs1057517124(-;-)
Alt rs1057517124(-;-)
Reference Rs1057517124(C;C)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80912831delC
CLNSRC
CLNACC RCV000410450.1,