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rs121964993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121964993(A;G)
Make rs121964993(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107917307
GeneDLD
is asnp
is mentioned by
dbSNPrs121964993
ebirs121964993
HLIrs121964993
Exacrs121964993
Varsomers121964993
Maprs121964993
PheGenIrs121964993
hapmaprs121964993
1000 genomesrs121964993
hgdprs121964993
ensemblrs121964993
gopubmedrs121964993
geneviewrs121964993
scholarrs121964993
googlers121964993
pharmgkbrs121964993
gwascentralrs121964993
openSNPrs121964993
23andMers121964993
23andMe allrs121964993
SNP Nexus

SNPshotrs121964993
SNPdbers121964993
MSV3drs121964993
GWAS Ctlgrs121964993
Max Magnitude0
OMIM238331
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121964993(G;G)
Alt rs121964993(G;G)
Reference rs121964993(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.107557752A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012752.23,