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rs398123666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGT;CAGT) 0 common in clinvar
Make rs398123666(-;-)
Make rs398123666(-;CAGT)
ReferenceGRCh38 38.1/141
Chromosome1
Position100230891
GeneDBT
is asnp
is mentioned by
dbSNPrs398123666
dbSNP (classic)rs398123666
ClinGenrs398123666
ebirs398123666
HLIrs398123666
Exacrs398123666
Gnomadrs398123666
Varsomers398123666
LitVarrs398123666
Maprs398123666
PheGenIrs398123666
Biobankrs398123666
1000 genomesrs398123666
hgdprs398123666
ensemblrs398123666
geneviewrs398123666
scholarrs398123666
googlers398123666
pharmgkbrs398123666
gwascentralrs398123666
openSNPrs398123666
23andMers398123666
SNPshotrs398123666
SNPdbers398123666
MSV3drs398123666
GWAS Ctlgrs398123666
Max Magnitude0
ClinVar
Risk rs398123666(-;-)
Alt rs398123666(-;-)
Reference Rs398123666(CAGT;CAGT)
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.100696447_100696450delACTG
CLNSRC ClinVar
CLNACC RCV000079942.3, RCV000178172.1,