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rs121918240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 8 methylmalonic aciduria, cblC type
(C;T) 2 carrier of a methylmalonic aciduria allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position45508282
GeneMMACHC
is asnp
is mentioned by
dbSNPrs121918240
ebirs121918240
HLIrs121918240
Exacrs121918240
Varsomers121918240
Maprs121918240
PheGenIrs121918240
hapmaprs121918240
1000 genomesrs121918240
hgdprs121918240
ensemblrs121918240
gopubmedrs121918240
geneviewrs121918240
scholarrs121918240
googlers121918240
pharmgkbrs121918240
gwascentralrs121918240
openSNPrs121918240
23andMers121918240
23andMe allrs121918240
SNP Nexus

SNPshotrs121918240
SNPdbers121918240
MSV3drs121918240
GWAS Ctlgrs121918240
Max Magnitude8
OMIM609831
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918240(C;C)
Alt rs121918240(C;C)
Reference rs121918240(T;T)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria
Variation info
Gene MMACHC
CLNDBN Methylmalonic acidemia with homocystinuria
Reversed 0
HGVS NC_000001.10:g.45973954T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001487.3,