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rs398123674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123674(A;G)
Make rs398123674(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position100214985
GeneDBT
is asnp
is mentioned by
dbSNPrs398123674
dbSNP (classic)rs398123674
ClinGenrs398123674
ebirs398123674
HLIrs398123674
Exacrs398123674
Gnomadrs398123674
Varsomers398123674
LitVarrs398123674
Maprs398123674
PheGenIrs398123674
Biobankrs398123674
1000 genomesrs398123674
hgdprs398123674
ensemblrs398123674
geneviewrs398123674
scholarrs398123674
googlers398123674
pharmgkbrs398123674
gwascentralrs398123674
openSNPrs398123674
23andMers398123674
SNPshotrs398123674
SNPdbers398123674
MSV3drs398123674
GWAS Ctlgrs398123674
Max Magnitude0
ClinVar
Risk rs398123674(G;G)
Alt rs398123674(G;G)
Reference Rs398123674(A;A)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene DBT
CLNDBN not provided Maple syrup urine disease
Reversed 1
HGVS NC_000001.10:g.100680541T>C
CLNSRC ClinVar
CLNACC RCV000079956.3, RCV000179838.1,