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rs398123667

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTATGAT;TTATGAT) 0 common in clinvar
Make rs398123667(-;-)
Make rs398123667(-;TTATGAT)
ReferenceGRCh38 38.1/141
Chromosome1
Position100230821
GeneDBT
is asnp
is mentioned by
dbSNPrs398123667
dbSNP (classic)rs398123667
ClinGenrs398123667
ebirs398123667
HLIrs398123667
Exacrs398123667
Gnomadrs398123667
Varsomers398123667
LitVarrs398123667
Maprs398123667
PheGenIrs398123667
Biobankrs398123667
1000 genomesrs398123667
hgdprs398123667
ensemblrs398123667
geneviewrs398123667
scholarrs398123667
googlers398123667
pharmgkbrs398123667
gwascentralrs398123667
openSNPrs398123667
23andMers398123667
SNPshotrs398123667
SNPdbers398123667
MSV3drs398123667
GWAS Ctlgrs398123667
Max Magnitude0
ClinVar
Risk rs398123667(-;-)
Alt rs398123667(-;-)
Reference Rs398123667(TTATGAT;TTATGAT)
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.100696377_100696383delATCATAA
CLNSRC ClinVar
CLNACC RCV000079943.3, RCV000178170.1,