rs121918243

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

45508848

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs121918243
dbSNP (classic)	rs121918243
ClinGen	rs121918243
ebi	rs121918243
HLI	rs121918243
Exac	rs121918243
Gnomad	rs121918243
Varsome	rs121918243
LitVar	rs121918243
Map	rs121918243
PheGenI	rs121918243
Biobank	rs121918243
1000 genomes	rs121918243
hgdp	rs121918243
ensembl	rs121918243
geneview	rs121918243
scholar	rs121918243
google	rs121918243
pharmgkb	rs121918243
gwascentral	rs121918243
openSNP	rs121918243
23andMe	rs121918243
SNPshot	rs121918243
SNPdbe	rs121918243
MSV3d	rs121918243
GWAS Ctlg	rs121918243

Max Magnitude

8

OMIM	609831
Desc
Variant	0005
Related	also

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 UniProtKB (protein)
CLNACC	RCV000001490.3, RCV000081740.5, RCV000203236.1,