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rs864309725

From SNPedia

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


Make rs864309725(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position145639300
GeneMMAA
is asnp
is mentioned by
dbSNPrs864309725
dbSNP (classic)rs864309725
ClinGenrs864309725
ebirs864309725
HLIrs864309725
Exacrs864309725
Gnomadrs864309725
Varsomers864309725
LitVarrs864309725
Maprs864309725
PheGenIrs864309725
Biobankrs864309725
1000 genomesrs864309725
hgdprs864309725
ensemblrs864309725
geneviewrs864309725
scholarrs864309725
googlers864309725
pharmgkbrs864309725
gwascentralrs864309725
openSNPrs864309725
23andMers864309725
SNPshotrs864309725
SNPdbers864309725
MSV3drs864309725
GWAS Ctlgrs864309725
Max Magnitude3
ClinVar
Risk rs864309725(A;A)
Alt rs864309725(A;A)
Reference Rs864309725(G;G)
Significance Pathogenic
Disease Methylmalonic aciduria cblA type
Variation info
Gene MMAA
CLNDBN Methylmalonic aciduria cblA type
Reversed 0
HGVS NC_000004.11:g.146560452G>A
CLNSRC
CLNACC RCV000203357.1,