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rs1060499715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499715(A;A)
Make rs1060499715(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position80343715
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs1060499715
dbSNP (old)rs1060499715
ClinGenrs1060499715
ebirs1060499715
HLIrs1060499715
Exacrs1060499715
Gnomadrs1060499715
Varsomers1060499715
Maprs1060499715
PheGenIrs1060499715
Biobankrs1060499715
1000 genomesrs1060499715
hgdprs1060499715
ensemblrs1060499715
gopubmedrs1060499715
geneviewrs1060499715
scholarrs1060499715
googlers1060499715
pharmgkbrs1060499715
gwascentralrs1060499715
openSNPrs1060499715
23andMers1060499715
23andMe allrs1060499715
SNPshotrs1060499715
SNPdbers1060499715
MSV3drs1060499715
GWAS Ctlgrs1060499715
Max Magnitude0
ClinVar
Risk rs1060499715(A;A)
Alt rs1060499715(A;A)
Reference Rs1060499715(G;G)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.81053432G>A
CLNSRC
CLNACC RCV000449516.1,