rs760782399

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

49457872

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs760782399
dbSNP (classic)	rs760782399
ClinGen	rs760782399
ebi	rs760782399
HLI	rs760782399
Exac	rs760782399
Gnomad	rs760782399
Varsome	rs760782399
LitVar	rs760782399
Map	rs760782399
PheGenI	rs760782399
Biobank	rs760782399
1000 genomes	rs760782399
hgdp	rs760782399
ensembl	rs760782399
geneview	rs760782399
scholar	rs760782399
google	rs760782399
pharmgkb	rs760782399
gwascentral	rs760782399
openSNP	rs760782399
23andMe	rs760782399
SNPshot	rs760782399
SNPdbe	rs760782399
MSV3d	rs760782399
GWAS Ctlg	rs760782399

Max Magnitude

8.8

ClinVar
Risk	Rs760782399(T;T)
Alt	Rs760782399(T;T)
Reference	Rs760782399(G;G)
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	0
HGVS	NC_000006.11:g.49425585G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000186054.2, RCV000203406.1,