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rs121918242

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
Position45508266
GeneMMACHC
is asnp
is mentioned by
dbSNPrs121918242
ebirs121918242
HLIrs121918242
Exacrs121918242
Varsomers121918242
Maprs121918242
PheGenIrs121918242
hapmaprs121918242
1000 genomesrs121918242
hgdprs121918242
ensemblrs121918242
gopubmedrs121918242
geneviewrs121918242
scholarrs121918242
googlers121918242
pharmgkbrs121918242
gwascentralrs121918242
openSNPrs121918242
23andMers121918242
23andMe allrs121918242
SNP Nexus

SNPshotrs121918242
SNPdbers121918242
MSV3drs121918242
GWAS Ctlgrs121918242
Max Magnitude8
OMIM609831
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918242(T;T)
Alt rs121918242(T;T)
Reference rs121918242(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.45973938C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001489.2, RCV000186026.1,