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rs753288303

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs753288303(C;T)
Make rs753288303(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49451518
GeneMUT
is asnp
is mentioned by
dbSNPrs753288303
ebirs753288303
HLIrs753288303
Exacrs753288303
Varsomers753288303
Maprs753288303
PheGenIrs753288303
hapmaprs753288303
1000 genomesrs753288303
hgdprs753288303
ensemblrs753288303
gopubmedrs753288303
geneviewrs753288303
scholarrs753288303
googlers753288303
pharmgkbrs753288303
gwascentralrs753288303
openSNPrs753288303
23andMers753288303
23andMe allrs753288303
SNP Nexus

SNPshotrs753288303
SNPdbers753288303
MSV3drs753288303
GWAS Ctlgrs753288303
Max Magnitude0
ClinVar
Risk rs753288303(T;T)
Alt rs753288303(T;T)
Reference rs753288303(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.49419231C>T
CLNSRC
CLNACC RCV000203344.1,