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rs121918243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 methylmalonic aciduria, cblC type
(A;G) 2 carrier of a methylmalonic aciduria allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position45508848
GeneMMACHC
is asnp
is mentioned by
dbSNPrs121918243
ebirs121918243
HLIrs121918243
Exacrs121918243
Varsomers121918243
Maprs121918243
PheGenIrs121918243
hapmaprs121918243
1000 genomesrs121918243
hgdprs121918243
ensemblrs121918243
gopubmedrs121918243
geneviewrs121918243
scholarrs121918243
googlers121918243
pharmgkbrs121918243
gwascentralrs121918243
openSNPrs121918243
23andMers121918243
23andMe allrs121918243
SNP Nexus

SNPshotrs121918243
SNPdbers121918243
MSV3drs121918243
GWAS Ctlgrs121918243
Max Magnitude8
OMIM609831
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918243(A;A)
Alt rs121918243(A;A)
Reference rs121918243(G;G)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria not provided Bull's eye maculopathy
Variation info
Gene MMACHC
CLNDBN Methylmalonic acidemia with homocystinuria not provided Bull's eye maculopathy
Reversed 0
HGVS NC_000001.10:g.45974520G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001490.2, RCV000081740.4, RCV000203236.1,