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rs121964987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121964987(A;G)
Make rs121964987(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107902340
GeneDLD
is asnp
is mentioned by
dbSNPrs121964987
dbSNP (classic)rs121964987
ClinGenrs121964987
ebirs121964987
HLIrs121964987
Exacrs121964987
Gnomadrs121964987
Varsomers121964987
LitVarrs121964987
Maprs121964987
PheGenIrs121964987
Biobankrs121964987
1000 genomesrs121964987
hgdprs121964987
ensemblrs121964987
geneviewrs121964987
scholarrs121964987
googlers121964987
pharmgkbrs121964987
gwascentralrs121964987
openSNPrs121964987
23andMers121964987
SNPshotrs121964987
SNPdbers121964987
MSV3drs121964987
GWAS Ctlgrs121964987
Max Magnitude0
OMIM238331
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964987(G;G)
Alt rs121964987(G;G)
Reference Rs121964987(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.107542785A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012742.23,