Have questions? Visit https://www.reddit.com/r/SNPedia

rs121964991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964991(C;C)
Make rs121964991(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107917404
GeneDLD
is asnp
is mentioned by
dbSNPrs121964991
ebirs121964991
HLIrs121964991
Exacrs121964991
Varsomers121964991
Maprs121964991
PheGenIrs121964991
hapmaprs121964991
1000 genomesrs121964991
hgdprs121964991
ensemblrs121964991
gopubmedrs121964991
geneviewrs121964991
scholarrs121964991
googlers121964991
pharmgkbrs121964991
gwascentralrs121964991
openSNPrs121964991
23andMers121964991
23andMe allrs121964991
SNP Nexus

SNPshotrs121964991
SNPdbers121964991
MSV3drs121964991
GWAS Ctlgrs121964991
Max Magnitude0
OMIM238331
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121964991(C;C)
Alt rs121964991(C;C)
Reference rs121964991(T;T)
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.107557849T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012747.18,