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rs398123669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123669(G;T)
Make rs398123669(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position100249769
GeneDBT
is asnp
is mentioned by
dbSNPrs398123669
dbSNP (classic)rs398123669
ClinGenrs398123669
ebirs398123669
HLIrs398123669
Exacrs398123669
Gnomadrs398123669
Varsomers398123669
LitVarrs398123669
Maprs398123669
PheGenIrs398123669
Biobankrs398123669
1000 genomesrs398123669
hgdprs398123669
ensemblrs398123669
geneviewrs398123669
scholarrs398123669
googlers398123669
pharmgkbrs398123669
gwascentralrs398123669
openSNPrs398123669
23andMers398123669
SNPshotrs398123669
SNPdbers398123669
MSV3drs398123669
GWAS Ctlgrs398123669
Max Magnitude0
ClinVar
Risk rs398123669(T;T)
Alt rs398123669(T;T)
Reference Rs398123669(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.100715325C>A
CLNSRC ClinVar
CLNACC RCV000079945.3, RCV000173266.2,