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rs121965000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965000(G;T)
Make rs121965000(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position100196256
GeneDBT
is asnp
is mentioned by
dbSNPrs121965000
ebirs121965000
HLIrs121965000
Exacrs121965000
Varsomers121965000
Maprs121965000
PheGenIrs121965000
hapmaprs121965000
1000 genomesrs121965000
hgdprs121965000
ensemblrs121965000
gopubmedrs121965000
geneviewrs121965000
scholarrs121965000
googlers121965000
pharmgkbrs121965000
gwascentralrs121965000
openSNPrs121965000
23andMers121965000
23andMe allrs121965000
SNP Nexus

SNPshotrs121965000
SNPdbers121965000
MSV3drs121965000
GWAS Ctlgrs121965000
Max Magnitude0
OMIM248610
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121965000(T;T)
Alt rs121965000(T;T)
Reference rs121965000(G;G)
Significance Pathogenic
Disease Intermediate maple syrup urine disease type 2
Variation info
Gene DBT
CLNDBN Intermediate maple syrup urine disease type 2
Reversed 1
HGVS NC_000001.10:g.100661812C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012725.17,