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rs547709692

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs547709692(A;A)
Make rs547709692(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49456101
GeneMUT
is asnp
is mentioned by
dbSNPrs547709692
ebirs547709692
HLIrs547709692
Exacrs547709692
Varsomers547709692
Maprs547709692
PheGenIrs547709692
hapmaprs547709692
1000 genomesrs547709692
hgdprs547709692
ensemblrs547709692
gopubmedrs547709692
geneviewrs547709692
scholarrs547709692
googlers547709692
pharmgkbrs547709692
gwascentralrs547709692
openSNPrs547709692
23andMers547709692
23andMe allrs547709692
SNP Nexus

SNPshotrs547709692
SNPdbers547709692
MSV3drs547709692
GWAS Ctlgrs547709692
Max Magnitude0
ClinVar
Risk rs547709692(A;A)
Alt rs547709692(A;A)
Reference rs547709692(G;G)
Significance Pathogenic
Disease not specified Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN not specified Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 0
HGVS NC_000006.11:g.49423814G>A
CLNSRC
CLNACC RCV000186060.1, RCV000210836.1,