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rs869320653

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869320653(A;G)
Make rs869320653(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49457791
GeneMUT
is asnp
is mentioned by
dbSNPrs869320653
ebirs869320653
HLIrs869320653
Exacrs869320653
Varsomers869320653
Maprs869320653
PheGenIrs869320653
hapmaprs869320653
1000 genomesrs869320653
hgdprs869320653
ensemblrs869320653
gopubmedrs869320653
geneviewrs869320653
scholarrs869320653
googlers869320653
pharmgkbrs869320653
gwascentralrs869320653
openSNPrs869320653
23andMers869320653
23andMe allrs869320653
SNP Nexus

SNPshotrs869320653
SNPdbers869320653
MSV3drs869320653
GWAS Ctlgrs869320653
Max Magnitude0
ClinVar
Risk rs869320653(G;G)
Alt rs869320653(G;G)
Reference rs869320653(A;A)
Significance Pathogenic
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49425504T>C
CLNSRC
CLNACC RCV000210845.1,