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rs398123660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123660(C;T)
Make rs398123660(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position100196413
GeneDBT
is asnp
is mentioned by
dbSNPrs398123660
dbSNP (classic)rs398123660
ClinGenrs398123660
ebirs398123660
HLIrs398123660
Exacrs398123660
Gnomadrs398123660
Varsomers398123660
LitVarrs398123660
Maprs398123660
PheGenIrs398123660
Biobankrs398123660
1000 genomesrs398123660
hgdprs398123660
ensemblrs398123660
geneviewrs398123660
scholarrs398123660
googlers398123660
pharmgkbrs398123660
gwascentralrs398123660
openSNPrs398123660
23andMers398123660
SNPshotrs398123660
SNPdbers398123660
MSV3drs398123660
GWAS Ctlgrs398123660
Max Magnitude0
ClinVar
Risk rs398123660(T;T)
Alt rs398123660(T;T)
Reference Rs398123660(C;C)
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.100661969G>A
CLNSRC ClinVar Emory University
CLNACC RCV000079933.3, RCV000174059.1,