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rs398123676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123676(C;C)
Make rs398123676(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position100214817
GeneDBT
is asnp
is mentioned by
dbSNPrs398123676
ebirs398123676
HLIrs398123676
Exacrs398123676
Varsomers398123676
Maprs398123676
PheGenIrs398123676
hapmaprs398123676
1000 genomesrs398123676
hgdprs398123676
ensemblrs398123676
gopubmedrs398123676
geneviewrs398123676
scholarrs398123676
googlers398123676
pharmgkbrs398123676
gwascentralrs398123676
openSNPrs398123676
23andMers398123676
23andMe allrs398123676
SNP Nexus

SNPshotrs398123676
SNPdbers398123676
MSV3drs398123676
GWAS Ctlgrs398123676
Max Magnitude0
ClinVar
Risk rs398123676(C;C)
Alt rs398123676(C;C)
Reference rs398123676(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.100680373C>G
CLNSRC HGMD
CLNACC RCV000079960.3, RCV000179839.2,