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rs797045411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045411(-;-)
Make rs797045411(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position80343744
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs797045411
ClinGenrs797045411
ebirs797045411
HLIrs797045411
Exacrs797045411
Varsomers797045411
Maprs797045411
PheGenIrs797045411
hapmaprs797045411
1000 genomesrs797045411
hgdprs797045411
ensemblrs797045411
gopubmedrs797045411
geneviewrs797045411
scholarrs797045411
googlers797045411
pharmgkbrs797045411
gwascentralrs797045411
openSNPrs797045411
23andMers797045411
23andMe allrs797045411
SNP Nexus

SNPshotrs797045411
SNPdbers797045411
MSV3drs797045411
GWAS Ctlgrs797045411
Max Magnitude0
ClinVar
Risk rs797045411(-;-)
Alt rs797045411(-;-)
Reference Rs797045411(A;A)
Significance Probable-Pathogenic
Disease Maple syrup urine disease type 1B
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease type 1B
Reversed 0
HGVS NC_000006.11:g.81053461delA
CLNSRC
CLNACC RCV000193073.1,