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rs140356252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 3 Carrier of a methylmalonic aciduria type cblA mutation
(T;T) 0 common in clinvar
Make rs140356252(C;C)
Make rs140356252(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position145646073
GeneMMAA
is asnp
is mentioned by
dbSNPrs140356252
dbSNP (classic)rs140356252
ClinGenrs140356252
ebirs140356252
HLIrs140356252
Exacrs140356252
Gnomadrs140356252
Varsomers140356252
LitVarrs140356252
Maprs140356252
PheGenIrs140356252
Biobankrs140356252
1000 genomesrs140356252
hgdprs140356252
ensemblrs140356252
geneviewrs140356252
scholarrs140356252
googlers140356252
pharmgkbrs140356252
gwascentralrs140356252
openSNPrs140356252
23andMers140356252
SNPshotrs140356252
SNPdbers140356252
MSV3drs140356252
GWAS Ctlgrs140356252
Max Magnitude3
ClinVar
Risk rs140356252(A;A) rs140356252(C;C)
Alt rs140356252(A;A) rs140356252(C;C)
Reference Rs140356252(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria cblA type
Variation info
Gene MMAA
CLNDBN Methylmalonic aciduria cblA type
Reversed 0
HGVS NC_000004.11:g.146567225T>A
CLNSRC
CLNACC RCV000203334.1,