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rs869320654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 3 Carrier of a methylmalonic aciduria type cblB mutation


Make rs869320654(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109561061
GeneMMAB
is asnp
is mentioned by
dbSNPrs869320654
dbSNP (classic)rs869320654
ClinGenrs869320654
ebirs869320654
HLIrs869320654
Exacrs869320654
Gnomadrs869320654
Varsomers869320654
LitVarrs869320654
Maprs869320654
PheGenIrs869320654
Biobankrs869320654
1000 genomesrs869320654
hgdprs869320654
ensemblrs869320654
geneviewrs869320654
scholarrs869320654
googlers869320654
pharmgkbrs869320654
gwascentralrs869320654
openSNPrs869320654
23andMers869320654
SNPshotrs869320654
SNPdbers869320654
MSV3drs869320654
GWAS Ctlgrs869320654
Max Magnitude3
ClinVar
Risk rs869320654(G;G)
Alt rs869320654(G;G)
Reference Rs869320654(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria cblB type
Variation info
Gene MMAB
CLNDBN Methylmalonic aciduria cblB type
Reversed 1
HGVS NC_000012.11:g.109998866A>C
CLNSRC
CLNACC RCV000210838.1,