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rs398123665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123665(A;A)
Make rs398123665(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position100235436
GeneDBT
is asnp
is mentioned by
dbSNPrs398123665
dbSNP (classic)rs398123665
ClinGenrs398123665
ebirs398123665
HLIrs398123665
Exacrs398123665
Gnomadrs398123665
Varsomers398123665
LitVarrs398123665
Maprs398123665
PheGenIrs398123665
Biobankrs398123665
1000 genomesrs398123665
hgdprs398123665
ensemblrs398123665
geneviewrs398123665
scholarrs398123665
googlers398123665
pharmgkbrs398123665
gwascentralrs398123665
openSNPrs398123665
23andMers398123665
SNPshotrs398123665
SNPdbers398123665
MSV3drs398123665
GWAS Ctlgrs398123665
Max Magnitude0
ClinVar
Risk rs398123665(A;A)
Alt rs398123665(A;A)
Reference Rs398123665(G;G)
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.100700992C>T
CLNSRC ClinVar Emory University
CLNACC RCV000079941.3, RCV000177143.1,