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rs397514649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514649(A;T)
Make rs397514649(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107919071
GeneDLD
is asnp
is mentioned by
dbSNPrs397514649
ebirs397514649
HLIrs397514649
Exacrs397514649
Varsomers397514649
Maprs397514649
PheGenIrs397514649
hapmaprs397514649
1000 genomesrs397514649
hgdprs397514649
ensemblrs397514649
gopubmedrs397514649
geneviewrs397514649
scholarrs397514649
googlers397514649
pharmgkbrs397514649
gwascentralrs397514649
openSNPrs397514649
23andMers397514649
23andMe allrs397514649
SNP Nexus

SNPshotrs397514649
SNPdbers397514649
MSV3drs397514649
GWAS Ctlgrs397514649
Max Magnitude0
ClinVar
Risk rs397514649(T;T)
Alt rs397514649(T;T)
Reference rs397514649(A;A)
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.107559516A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033216.25,