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rs121964999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964999(G;G)
Make rs121964999(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position100214929
GeneDBT
is asnp
is mentioned by
dbSNPrs121964999
ebirs121964999
HLIrs121964999
Exacrs121964999
Varsomers121964999
Maprs121964999
PheGenIrs121964999
hapmaprs121964999
1000 genomesrs121964999
hgdprs121964999
ensemblrs121964999
gopubmedrs121964999
geneviewrs121964999
scholarrs121964999
googlers121964999
pharmgkbrs121964999
gwascentralrs121964999
openSNPrs121964999
23andMers121964999
23andMe allrs121964999
SNP Nexus

SNPshotrs121964999
SNPdbers121964999
MSV3drs121964999
GWAS Ctlgrs121964999
Max Magnitude0
OMIM248610
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964999(G;G)
Alt rs121964999(G;G)
Reference rs121964999(T;T)
Significance Pathogenic
Disease Maple syrup urine disease not provided Maple syrup urine disease
Variation info
Gene DBT
CLNDBN Maple syrup urine disease, thiamine-responsive, type II not provided Maple syrup urine disease
Reversed 1
HGVS NC_000001.10:g.100680485A>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012721.23, RCV000079957.3, RCV000179835.1,