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rs398124296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 methylmalonic aciduria, cblC type
(-;AAG) 2 carrier of a methylmalonic aciduria allele
(AAG;AAG) 0 common in clinvar
(AGA;AGA) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position45509024
GeneMMACHC
is asnp
is mentioned by
dbSNPrs398124296
ebirs398124296
HLIrs398124296
Exacrs398124296
Varsomers398124296
Maprs398124296
PheGenIrs398124296
hapmaprs398124296
1000 genomesrs398124296
hgdprs398124296
ensemblrs398124296
gopubmedrs398124296
geneviewrs398124296
scholarrs398124296
googlers398124296
pharmgkbrs398124296
gwascentralrs398124296
openSNPrs398124296
23andMers398124296
23andMe allrs398124296
SNP Nexus

SNPshotrs398124296
SNPdbers398124296
MSV3drs398124296
GWAS Ctlgrs398124296
Max Magnitude8
ClinVar
Risk rs398124296(;)
Alt rs398124296(;)
Reference rs398124296(AGA;AGA)
Significance Pathogenic
Disease not provided
Variation info
Gene MMACHC
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.45974696_45974698delAAG
CLNSRC HGMD
CLNACC RCV000081744.4,