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rs104893851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a methylmalonic aciduria type cblA mutation
Make rs104893851(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position145639572
GeneMMAA
is asnp
is mentioned by
dbSNPrs104893851
dbSNP (classic)rs104893851
ClinGenrs104893851
ebirs104893851
HLIrs104893851
Exacrs104893851
Gnomadrs104893851
Varsomers104893851
LitVarrs104893851
Maprs104893851
PheGenIrs104893851
Biobankrs104893851
1000 genomesrs104893851
hgdprs104893851
ensemblrs104893851
geneviewrs104893851
scholarrs104893851
googlers104893851
pharmgkbrs104893851
gwascentralrs104893851
openSNPrs104893851
23andMers104893851
SNPshotrs104893851
SNPdbers104893851
MSV3drs104893851
GWAS Ctlgrs104893851
Max Magnitude3
OMIM607481
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893851(T;T)
Alt rs104893851(T;T)
Reference Rs104893851(C;C)
Significance Pathogenic
Disease Methylmalonic aciduria cblA type not provided
Variation info
Gene MMAA
CLNDBN Methylmalonic aciduria cblA type not provided
Reversed 0
HGVS NC_000004.11:g.146560724C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003310.5, RCV000186012.3,