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rs533755473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs533755473(C;G)
Make rs533755473(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49451521
GeneMUT
is asnp
is mentioned by
dbSNPrs533755473
dbSNP (classic)rs533755473
ClinGenrs533755473
ebirs533755473
HLIrs533755473
Exacrs533755473
Gnomadrs533755473
Varsomers533755473
LitVarrs533755473
Maprs533755473
PheGenIrs533755473
Biobankrs533755473
1000 genomesrs533755473
hgdprs533755473
ensemblrs533755473
geneviewrs533755473
scholarrs533755473
googlers533755473
pharmgkbrs533755473
gwascentralrs533755473
openSNPrs533755473
23andMers533755473
SNPshotrs533755473
SNPdbers533755473
MSV3drs533755473
GWAS Ctlgrs533755473
Max Magnitude0
ClinVar
Risk rs533755473(G;G) rs533755473(T;T)
Alt rs533755473(G;G) rs533755473(T;T)
Reference Rs533755473(C;C)
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 0
HGVS NC_000006.11:g.49419234C>T
CLNSRC
CLNACC RCV000236497.1,