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rs200908035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200908035(C;C)
Make rs200908035(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49457878
GeneMUT
is asnp
is mentioned by
dbSNPrs200908035
dbSNP (classic)rs200908035
ClinGenrs200908035
ebirs200908035
HLIrs200908035
Exacrs200908035
Gnomadrs200908035
Varsomers200908035
LitVarrs200908035
Maprs200908035
PheGenIrs200908035
Biobankrs200908035
1000 genomesrs200908035
hgdprs200908035
ensemblrs200908035
geneviewrs200908035
scholarrs200908035
googlers200908035
pharmgkbrs200908035
gwascentralrs200908035
openSNPrs200908035
23andMers200908035
SNPshotrs200908035
SNPdbers200908035
MSV3drs200908035
GWAS Ctlgrs200908035
Max Magnitude0
ClinVar
Risk rs200908035(A;A) rs200908035(C;C)
Alt rs200908035(A;A) rs200908035(C;C)
Reference Rs200908035(T;T)
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.49425591T>A
CLNSRC
CLNACC RCV000236505.1,