rs121918240

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	8	methylmalonic aciduria, cblC type
(C;T)	3	Carrier of a methylmalonic aciduria type cblC mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

45508282

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs121918240
dbSNP (classic)	rs121918240
ClinGen	rs121918240
ebi	rs121918240
HLI	rs121918240
Exac	rs121918240
Gnomad	rs121918240
Varsome	rs121918240
LitVar	rs121918240
Map	rs121918240
PheGenI	rs121918240
Biobank	rs121918240
1000 genomes	rs121918240
hgdp	rs121918240
ensembl	rs121918240
geneview	rs121918240
scholar	rs121918240
google	rs121918240
pharmgkb	rs121918240
gwascentral	rs121918240
openSNP	rs121918240
23andMe	rs121918240
SNPshot	rs121918240
SNPdbe	rs121918240
MSV3d	rs121918240
GWAS Ctlg	rs121918240

Max Magnitude

8

OMIM	609831
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000001487.3,