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rs869320656

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 rs869320656(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position145642486
GeneMMAA
is asnp
is mentioned by
dbSNPrs869320656
dbSNP (classic)rs869320656
ClinGenrs869320656
ebirs869320656
HLIrs869320656
Exacrs869320656
Gnomadrs869320656
Varsomers869320656
LitVarrs869320656
Maprs869320656
PheGenIrs869320656
Biobankrs869320656
1000 genomesrs869320656
hgdprs869320656
ensemblrs869320656
geneviewrs869320656
scholarrs869320656
googlers869320656
pharmgkbrs869320656
gwascentralrs869320656
openSNPrs869320656
23andMers869320656
SNPshotrs869320656
SNPdbers869320656
MSV3drs869320656
GWAS Ctlgrs869320656
Max Magnitude3
ClinVar
Risk rs869320656(A;A)
Alt rs869320656(A;A)
Reference Rs869320656(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.146563638G>A
CLNSRC
CLNACC RCV000210831.1,