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rs147210405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147210405(A;A)
Make rs147210405(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position31110716
GeneBCKDK
is asnp
is mentioned by
dbSNPrs147210405
ebirs147210405
HLIrs147210405
Exacrs147210405
Varsomers147210405
Maprs147210405
PheGenIrs147210405
hapmaprs147210405
1000 genomesrs147210405
hgdprs147210405
ensemblrs147210405
gopubmedrs147210405
geneviewrs147210405
scholarrs147210405
googlers147210405
pharmgkbrs147210405
gwascentralrs147210405
openSNPrs147210405
23andMers147210405
23andMe allrs147210405
SNP Nexus

SNPshotrs147210405
SNPdbers147210405
MSV3drs147210405
GWAS Ctlgrs147210405
Max Magnitude0
ClinVar
Risk rs147210405(A,C;A,C)
Alt rs147210405(A,C;A,C)
Reference rs147210405(G;G)
Significance Pathogenic
Disease Branched-chain keto acid dehydrogenase kinase deficiency
Variation info
Gene BCKDK
CLNDBN Branched-chain keto acid dehydrogenase kinase deficiency
Reversed 0
HGVS NC_000016.9:g.31122037G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032961.2,