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rs869320655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a methylmalonic aciduria type cblB mutation
(T;T) 0 common in clinvar


Make rs869320655(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109573479
GeneMMAB, MVK
is asnp
is mentioned by
dbSNPrs869320655
dbSNP (classic)rs869320655
ClinGenrs869320655
ebirs869320655
HLIrs869320655
Exacrs869320655
Gnomadrs869320655
Varsomers869320655
LitVarrs869320655
Maprs869320655
PheGenIrs869320655
Biobankrs869320655
1000 genomesrs869320655
hgdprs869320655
ensemblrs869320655
geneviewrs869320655
scholarrs869320655
googlers869320655
pharmgkbrs869320655
gwascentralrs869320655
openSNPrs869320655
23andMers869320655
SNPshotrs869320655
SNPdbers869320655
MSV3drs869320655
GWAS Ctlgrs869320655
Max Magnitude3
ClinVar
Risk rs869320655(C;C)
Alt rs869320655(C;C)
Reference Rs869320655(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria cblB type
Variation info
Gene MVK MMAB
CLNDBN Methylmalonic aciduria cblB type
Reversed 1
HGVS NC_000012.11:g.110011284A>G
CLNSRC
CLNACC RCV000210846.1,