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rs397514651

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514651(C;C)
Make rs397514651(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107901759
GeneDLD
is asnp
is mentioned by
dbSNPrs397514651
dbSNP (classic)rs397514651
ClinGenrs397514651
ebirs397514651
HLIrs397514651
Exacrs397514651
Gnomadrs397514651
Varsomers397514651
LitVarrs397514651
Maprs397514651
PheGenIrs397514651
Biobankrs397514651
1000 genomesrs397514651
hgdprs397514651
ensemblrs397514651
geneviewrs397514651
scholarrs397514651
googlers397514651
pharmgkbrs397514651
gwascentralrs397514651
openSNPrs397514651
23andMers397514651
SNPshotrs397514651
SNPdbers397514651
MSV3drs397514651
GWAS Ctlgrs397514651
Max Magnitude0
ClinVar
Risk rs397514651(C;C)
Alt rs397514651(C;C)
Reference Rs397514651(T;T)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene DLD
CLNDBN Maple syrup urine disease, type 3
Reversed 0
HGVS NC_000007.13:g.107542204T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033218.18,