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rs746219370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a methylmalonic aciduria type cblB mutation
Make rs746219370(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109561052
GeneMMAB
is asnp
is mentioned by
dbSNPrs746219370
dbSNP (classic)rs746219370
ClinGenrs746219370
ebirs746219370
HLIrs746219370
Exacrs746219370
Gnomadrs746219370
Varsomers746219370
LitVarrs746219370
Maprs746219370
PheGenIrs746219370
Biobankrs746219370
1000 genomesrs746219370
hgdprs746219370
ensemblrs746219370
geneviewrs746219370
scholarrs746219370
googlers746219370
pharmgkbrs746219370
gwascentralrs746219370
openSNPrs746219370
23andMers746219370
SNPshotrs746219370
SNPdbers746219370
MSV3drs746219370
GWAS Ctlgrs746219370
Max Magnitude3
ClinVar
Risk rs746219370(T;T)
Alt rs746219370(T;T)
Reference Rs746219370(C;C)
Significance Pathogenic
Disease Methylmalonic aciduria cblB type
Variation info
Gene MMAB
CLNDBN Methylmalonic aciduria cblB type
Reversed 0
HGVS NC_000012.11:g.109998857C>T
CLNSRC
CLNACC RCV000203356.1,