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rs398123675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123675(C;T)
Make rs398123675(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position100214885
GeneDBT
is asnp
is mentioned by
dbSNPrs398123675
dbSNP (classic)rs398123675
ClinGenrs398123675
ebirs398123675
HLIrs398123675
Exacrs398123675
Gnomadrs398123675
Varsomers398123675
LitVarrs398123675
Maprs398123675
PheGenIrs398123675
Biobankrs398123675
1000 genomesrs398123675
hgdprs398123675
ensemblrs398123675
geneviewrs398123675
scholarrs398123675
googlers398123675
pharmgkbrs398123675
gwascentralrs398123675
openSNPrs398123675
23andMers398123675
SNPshotrs398123675
SNPdbers398123675
MSV3drs398123675
GWAS Ctlgrs398123675
Max Magnitude0
ClinVar
Risk rs398123675(T;T)
Alt rs398123675(T;T)
Reference Rs398123675(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.100680441G>A
CLNSRC ClinVar Emory University
CLNACC RCV000079958.3, RCV000179837.1,