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rs121965003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965003(C;G)
Make rs121965003(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position100216174
GeneDBT
is asnp
is mentioned by
dbSNPrs121965003
ebirs121965003
HLIrs121965003
Exacrs121965003
Varsomers121965003
Maprs121965003
PheGenIrs121965003
hapmaprs121965003
1000 genomesrs121965003
hgdprs121965003
ensemblrs121965003
gopubmedrs121965003
geneviewrs121965003
scholarrs121965003
googlers121965003
pharmgkbrs121965003
gwascentralrs121965003
openSNPrs121965003
23andMers121965003
23andMe allrs121965003
SNP Nexus

SNPshotrs121965003
SNPdbers121965003
MSV3drs121965003
GWAS Ctlgrs121965003
Max Magnitude0
OMIM248610
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121965003(G;G)
Alt rs121965003(G;G)
Reference rs121965003(C;C)
Significance Pathogenic
Disease Maple syrup urine disease type 2
Variation info
Gene DBT
CLNDBN Maple syrup urine disease type 2
Reversed 1
HGVS NC_000001.10:g.100681730G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012731.17,