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rs753564352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs753564352(C;T)
Make rs753564352(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position49444652
GeneMUT
is asnp
is mentioned by
dbSNPrs753564352
dbSNP (classic)rs753564352
ClinGenrs753564352
ebirs753564352
HLIrs753564352
Exacrs753564352
Gnomadrs753564352
Varsomers753564352
LitVarrs753564352
Maprs753564352
PheGenIrs753564352
Biobankrs753564352
1000 genomesrs753564352
hgdprs753564352
ensemblrs753564352
geneviewrs753564352
scholarrs753564352
googlers753564352
pharmgkbrs753564352
gwascentralrs753564352
openSNPrs753564352
23andMers753564352
SNPshotrs753564352
SNPdbers753564352
MSV3drs753564352
GWAS Ctlgrs753564352
Max Magnitude0
ClinVar
Risk rs753564352(T;T)
Alt rs753564352(T;T)
Reference Rs753564352(C;C)
Significance Pathogenic
Disease not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 0
HGVS NC_000006.11:g.49412365C>T
CLNSRC
CLNACC RCV000186050.1, RCV000210837.1,