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rs121964988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964988(C;T)
Make rs121964988(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107919098
GeneDLD
is asnp
is mentioned by
dbSNPrs121964988
ebirs121964988
HLIrs121964988
Exacrs121964988
Varsomers121964988
Maprs121964988
PheGenIrs121964988
hapmaprs121964988
1000 genomesrs121964988
hgdprs121964988
ensemblrs121964988
gopubmedrs121964988
geneviewrs121964988
scholarrs121964988
googlers121964988
pharmgkbrs121964988
gwascentralrs121964988
openSNPrs121964988
23andMers121964988
23andMe allrs121964988
SNP Nexus

SNPshotrs121964988
SNPdbers121964988
MSV3drs121964988
GWAS Ctlgrs121964988
Max Magnitude0
OMIM238331
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964988(T;T)
Alt rs121964988(T;T)
Reference rs121964988(C;C)
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.107559543C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012743.23,