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rs864309730

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 rs864309730(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position145646076
GeneMMAA
is asnp
is mentioned by
dbSNPrs864309730
dbSNP (classic)rs864309730
ClinGenrs864309730
ebirs864309730
HLIrs864309730
Exacrs864309730
Gnomadrs864309730
Varsomers864309730
LitVarrs864309730
Maprs864309730
PheGenIrs864309730
Biobankrs864309730
1000 genomesrs864309730
hgdprs864309730
ensemblrs864309730
geneviewrs864309730
scholarrs864309730
googlers864309730
pharmgkbrs864309730
gwascentralrs864309730
openSNPrs864309730
23andMers864309730
SNPshotrs864309730
SNPdbers864309730
MSV3drs864309730
GWAS Ctlgrs864309730
Max Magnitude3
ClinVar
Risk rs864309730(A;A)
Alt rs864309730(A;A)
Reference Rs864309730(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.146567228G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000203378.1,