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rs121964990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964990(G;T)
Make rs121964990(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107915506
GeneDLD
is asnp
is mentioned by
dbSNPrs121964990
ebirs121964990
HLIrs121964990
Exacrs121964990
Varsomers121964990
Maprs121964990
PheGenIrs121964990
hapmaprs121964990
1000 genomesrs121964990
hgdprs121964990
ensemblrs121964990
gopubmedrs121964990
geneviewrs121964990
scholarrs121964990
googlers121964990
pharmgkbrs121964990
gwascentralrs121964990
openSNPrs121964990
23andMers121964990
23andMe allrs121964990
SNP Nexus

SNPshotrs121964990
SNPdbers121964990
MSV3drs121964990
GWAS Ctlgrs121964990
Max Magnitude0
OMIM238331
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121964990(T;T)
Alt rs121964990(T;T)
Reference rs121964990(G;G)
Significance Pathogenic
Disease Maple syrup urine disease not provided
Variation info
Gene DLD
CLNDBN Maple syrup urine disease, type 3 not provided
Reversed 0
HGVS NC_000007.13:g.107555951G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012744.17, RCV000185853.2,