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rs1085307058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome6
Position80167702
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs1085307058
dbSNP (classic)rs1085307058
ClinGenrs1085307058
ebirs1085307058
HLIrs1085307058
Exacrs1085307058
Gnomadrs1085307058
Varsomers1085307058
LitVarrs1085307058
Maprs1085307058
PheGenIrs1085307058
Biobankrs1085307058
1000 genomesrs1085307058
hgdprs1085307058
ensemblrs1085307058
geneviewrs1085307058
scholarrs1085307058
googlers1085307058
pharmgkbrs1085307058
gwascentralrs1085307058
openSNPrs1085307058
23andMers1085307058
23andMe allrs1085307058
SNPshotrs1085307058
SNPdbers1085307058
MSV3drs1085307058
GWAS Ctlgrs1085307058
Max Magnitude0
ClinVar
Risk rs1085307058(-;-)
Alt rs1085307058(-;-)
Reference Rs1085307058(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.80877419delC
CLNSRC
CLNACC RCV000490444.1,