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rs397514650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514650(A;G)
Make rs397514650(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107919079
GeneDLD
is asnp
is mentioned by
dbSNPrs397514650
dbSNP (classic)rs397514650
ClinGenrs397514650
ebirs397514650
HLIrs397514650
Exacrs397514650
Gnomadrs397514650
Varsomers397514650
LitVarrs397514650
Maprs397514650
PheGenIrs397514650
Biobankrs397514650
1000 genomesrs397514650
hgdprs397514650
ensemblrs397514650
geneviewrs397514650
scholarrs397514650
googlers397514650
pharmgkbrs397514650
gwascentralrs397514650
openSNPrs397514650
23andMers397514650
SNPshotrs397514650
SNPdbers397514650
MSV3drs397514650
GWAS Ctlgrs397514650
Max Magnitude0
ClinVar
Risk rs397514650(G;G)
Alt rs397514650(G;G)
Reference Rs397514650(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.107559524A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033217.24,