rs398123278

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier for a methylmalonic aciduria mutation
(T;T)	8.8	Methylmalonic aciduria (predicted)

Reference

GRCh38 38.1/141

Chromosome

6

Position

49459376

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs398123278
dbSNP (classic)	rs398123278
ClinGen	rs398123278
ebi	rs398123278
HLI	rs398123278
Exac	rs398123278
Gnomad	rs398123278
Varsome	rs398123278
LitVar	rs398123278
Map	rs398123278
PheGenI	rs398123278
Biobank	rs398123278
1000 genomes	rs398123278
hgdp	rs398123278
ensembl	rs398123278
geneview	rs398123278
scholar	rs398123278
google	rs398123278
pharmgkb	rs398123278
gwascentral	rs398123278
openSNP	rs398123278
23andMe	rs398123278
SNPshot	rs398123278
SNPdbe	rs398123278
MSV3d	rs398123278
GWAS Ctlg	rs398123278

Max Magnitude

8.8

ClinVar
Risk	Rs398123278(T;T)
Alt	Rs398123278(T;T)
Reference	Rs398123278(C;C)
Significance	Pathogenic
Disease	not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation	info
Gene	MUT
CLNDBN	not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed	1
HGVS	NC_000006.11:g.49427089G>A
CLNSRC	HGMD
CLNACC	RCV000078448.3, RCV000175566.2,