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rs398124293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 appears to be the normal form
(-;GT) 2 carrier of a methylmalonic aciduria allele
(G;G) 0 common in clinvar
(TG;TG) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position45508913
GeneMMACHC
is asnp
is mentioned by
dbSNPrs398124293
ebirs398124293
HLIrs398124293
Exacrs398124293
Varsomers398124293
Maprs398124293
PheGenIrs398124293
hapmaprs398124293
1000 genomesrs398124293
hgdprs398124293
ensemblrs398124293
gopubmedrs398124293
geneviewrs398124293
scholarrs398124293
googlers398124293
pharmgkbrs398124293
gwascentralrs398124293
openSNPrs398124293
23andMers398124293
23andMe allrs398124293
SNP Nexus

SNPshotrs398124293
SNPdbers398124293
MSV3drs398124293
GWAS Ctlgrs398124293
Max Magnitude2
ClinVar
Risk rs398124293(GGT,GTACC;GGT,GTACC)
Alt rs398124293(GGT,GTACC;GGT,GTACC)
Reference rs398124293(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene MMACHC
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.45974585_45974586delGT
CLNSRC HGMD
CLNACC RCV000081741.4,