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rs397514573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514573(C;T)
Make rs397514573(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position31110247
GeneBCKDK
is asnp
is mentioned by
dbSNPrs397514573
ebirs397514573
HLIrs397514573
Exacrs397514573
Varsomers397514573
Maprs397514573
PheGenIrs397514573
hapmaprs397514573
1000 genomesrs397514573
hgdprs397514573
ensemblrs397514573
gopubmedrs397514573
geneviewrs397514573
scholarrs397514573
googlers397514573
pharmgkbrs397514573
gwascentralrs397514573
openSNPrs397514573
23andMers397514573
23andMe allrs397514573
SNP Nexus

SNPshotrs397514573
SNPdbers397514573
MSV3drs397514573
GWAS Ctlgrs397514573
Max Magnitude0
ClinVar
Risk rs397514573(T;T)
Alt rs397514573(T;T)
Reference rs397514573(C;C)
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.31121568C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032959.2,