rs753288303

Orientation

plus

Stabilized

plus

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.p2 38.2/146

Chromosome

6

Position

49451518

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs753288303
dbSNP (classic)	rs753288303
ClinGen	rs753288303
ebi	rs753288303
HLI	rs753288303
Exac	rs753288303
Gnomad	rs753288303
Varsome	rs753288303
LitVar	rs753288303
Map	rs753288303
PheGenI	rs753288303
Biobank	rs753288303
1000 genomes	rs753288303
hgdp	rs753288303
ensembl	rs753288303
geneview	rs753288303
scholar	rs753288303
google	rs753288303
pharmgkb	rs753288303
gwascentral	rs753288303
openSNP	rs753288303
23andMe	rs753288303
SNPshot	rs753288303
SNPdbe	rs753288303
MSV3d	rs753288303
GWAS Ctlg	rs753288303

Max Magnitude

8.8

ClinVar
Risk	Rs753288303(T;T)
Alt	Rs753288303(T;T)
Reference	Rs753288303(C;C)
Significance	Pathogenic
Disease	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation	info
Gene	MUT
CLNDBN	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed	0
HGVS	NC_000006.11:g.49419231C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203344.2,