rs121918241

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

45508329

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs121918241
dbSNP (classic)	rs121918241
ClinGen	rs121918241
ebi	rs121918241
HLI	rs121918241
Exac	rs121918241
Gnomad	rs121918241
Varsome	rs121918241
LitVar	rs121918241
Map	rs121918241
PheGenI	rs121918241
Biobank	rs121918241
1000 genomes	rs121918241
hgdp	rs121918241
ensembl	rs121918241
geneview	rs121918241
scholar	rs121918241
google	rs121918241
pharmgkb	rs121918241
gwascentral	rs121918241
openSNP	rs121918241
23andMe	rs121918241
SNPshot	rs121918241
SNPdbe	rs121918241
MSV3d	rs121918241
GWAS Ctlg	rs121918241

Max Magnitude

8

OMIM	609831
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918241(A;A) Rs121918241(T;T)
Alt	rs121918241(A;A) Rs121918241(T;T)
Reference	Rs121918241(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.45974001C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000001488.5, RCV000153508.6,