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rs121965002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121965002(A;G)
Make rs121965002(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position100196349
GeneDBT
is asnp
is mentioned by
dbSNPrs121965002
ebirs121965002
HLIrs121965002
Exacrs121965002
Varsomers121965002
Maprs121965002
PheGenIrs121965002
hapmaprs121965002
1000 genomesrs121965002
hgdprs121965002
ensemblrs121965002
gopubmedrs121965002
geneviewrs121965002
scholarrs121965002
googlers121965002
pharmgkbrs121965002
gwascentralrs121965002
openSNPrs121965002
23andMers121965002
23andMe allrs121965002
SNP Nexus

SNPshotrs121965002
SNPdbers121965002
MSV3drs121965002
GWAS Ctlgrs121965002
Max Magnitude0
OMIM248610
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121965002(G;G)
Alt rs121965002(G;G)
Reference rs121965002(A;A)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene DBT
CLNDBN Maple syrup urine disease, thiamine-responsive, type II
Reversed 1
HGVS NC_000001.10:g.100661905T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012730.25,