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rs763935916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Carrier of a methylmalonic aciduria type cblB mutation
(C;C) 0 common in clinvar


Make rs763935916(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109568864
GeneMMAB
is asnp
is mentioned by
dbSNPrs763935916
dbSNP (classic)rs763935916
ClinGenrs763935916
ebirs763935916
HLIrs763935916
Exacrs763935916
Gnomadrs763935916
Varsomers763935916
LitVarrs763935916
Maprs763935916
PheGenIrs763935916
Biobankrs763935916
1000 genomesrs763935916
hgdprs763935916
ensemblrs763935916
geneviewrs763935916
scholarrs763935916
googlers763935916
pharmgkbrs763935916
gwascentralrs763935916
openSNPrs763935916
23andMers763935916
SNPshotrs763935916
SNPdbers763935916
MSV3drs763935916
GWAS Ctlgrs763935916
Max Magnitude3
ClinVar
Risk rs763935916(A;A)
Alt rs763935916(A;A)
Reference Rs763935916(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.110006669C>A
CLNSRC
CLNACC RCV000203326.1,