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

rs121964992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964992(A;A)
Make rs121964992(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107917349
GeneDLD
is asnp
is mentioned by
dbSNPrs121964992
ebirs121964992
HLIrs121964992
Exacrs121964992
Varsomers121964992
Maprs121964992
PheGenIrs121964992
hapmaprs121964992
1000 genomesrs121964992
hgdprs121964992
ensemblrs121964992
gopubmedrs121964992
geneviewrs121964992
scholarrs121964992
googlers121964992
pharmgkbrs121964992
gwascentralrs121964992
openSNPrs121964992
23andMers121964992
23andMe allrs121964992
SNP Nexus

SNPshotrs121964992
SNPdbers121964992
MSV3drs121964992
GWAS Ctlgrs121964992
Max Magnitude0
OMIM238331
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121964992(A;A)
Alt rs121964992(A;A)
Reference rs121964992(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.107557794G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012751.23, RCV000185859.1,