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rs121918241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 carrier of a methylmalonic aciduria allele
(T;T) 8 methylmalonic aciduria, cblC type
ReferenceGRCh38 38.1/141
Chromosome1
Position45508329
GeneMMACHC
is asnp
is mentioned by
dbSNPrs121918241
ebirs121918241
HLIrs121918241
Exacrs121918241
Varsomers121918241
Maprs121918241
PheGenIrs121918241
hapmaprs121918241
1000 genomesrs121918241
hgdprs121918241
ensemblrs121918241
gopubmedrs121918241
geneviewrs121918241
scholarrs121918241
googlers121918241
pharmgkbrs121918241
gwascentralrs121918241
openSNPrs121918241
23andMers121918241
23andMe allrs121918241
SNP Nexus

SNPshotrs121918241
SNPdbers121918241
MSV3drs121918241
GWAS Ctlgrs121918241
Max Magnitude8
OMIM609831
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918241(A,T;A,T)
Alt rs121918241(A,T;A,T)
Reference rs121918241(C;C)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria not provided
Variation info
Gene MMACHC
CLNDBN Methylmalonic acidemia with homocystinuria not provided
Reversed 0
HGVS NC_000001.10:g.45974001C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001488.4, RCV000153508.5,