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rs398124295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 methylmalonic aciduria, cblC type
(A;G) 2 carrier of a methylmalonic aciduria allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position45508974
GeneMMACHC
is asnp
is mentioned by
dbSNPrs398124295
ebirs398124295
HLIrs398124295
Exacrs398124295
Varsomers398124295
Maprs398124295
PheGenIrs398124295
hapmaprs398124295
1000 genomesrs398124295
hgdprs398124295
ensemblrs398124295
gopubmedrs398124295
geneviewrs398124295
scholarrs398124295
googlers398124295
pharmgkbrs398124295
gwascentralrs398124295
openSNPrs398124295
23andMers398124295
23andMe allrs398124295
SNP Nexus

SNPshotrs398124295
SNPdbers398124295
MSV3drs398124295
GWAS Ctlgrs398124295
Max Magnitude8
ClinVar
Risk rs398124295(A;A)
Alt rs398124295(A;A)
Reference rs398124295(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene MMACHC
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.45974646G>A
CLNSRC HGMD
CLNACC RCV000081743.4,