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rs121964989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121964989(A;G)
Make rs121964989(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107919212
GeneDLD
is asnp
is mentioned by
dbSNPrs121964989
ebirs121964989
HLIrs121964989
Exacrs121964989
Varsomers121964989
Maprs121964989
PheGenIrs121964989
hapmaprs121964989
1000 genomesrs121964989
hgdprs121964989
ensemblrs121964989
gopubmedrs121964989
geneviewrs121964989
scholarrs121964989
googlers121964989
pharmgkbrs121964989
gwascentralrs121964989
openSNPrs121964989
23andMers121964989
23andMe allrs121964989
SNP Nexus

SNPshotrs121964989
SNPdbers121964989
MSV3drs121964989
GWAS Ctlgrs121964989
Max Magnitude0
OMIM238331
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964989(G;G)
Alt rs121964989(G;G)
Reference rs121964989(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.107559657A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012746.25,