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rs121965001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965001(C;G)
Make rs121965001(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position100230872
GeneDBT
is asnp
is mentioned by
dbSNPrs121965001
ebirs121965001
HLIrs121965001
Exacrs121965001
Varsomers121965001
Maprs121965001
PheGenIrs121965001
hapmaprs121965001
1000 genomesrs121965001
hgdprs121965001
ensemblrs121965001
gopubmedrs121965001
geneviewrs121965001
scholarrs121965001
googlers121965001
pharmgkbrs121965001
gwascentralrs121965001
openSNPrs121965001
23andMers121965001
23andMe allrs121965001
SNP Nexus

SNPshotrs121965001
SNPdbers121965001
MSV3drs121965001
GWAS Ctlgrs121965001
Max Magnitude0
OMIM248610
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121965001(G;G)
Alt rs121965001(G;G)
Reference rs121965001(C;C)
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.100696428G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012726.23,