rs777758903

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

49435500

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs777758903
dbSNP (classic)	rs777758903
ClinGen	rs777758903
ebi	rs777758903
HLI	rs777758903
Exac	rs777758903
Gnomad	rs777758903
Varsome	rs777758903
LitVar	rs777758903
Map	rs777758903
PheGenI	rs777758903
Biobank	rs777758903
1000 genomes	rs777758903
hgdp	rs777758903
ensembl	rs777758903
geneview	rs777758903
scholar	rs777758903
google	rs777758903
pharmgkb	rs777758903
gwascentral	rs777758903
openSNP	rs777758903
23andMe	rs777758903
SNPshot	rs777758903
SNPdbe	rs777758903
MSV3d	rs777758903
GWAS Ctlg	rs777758903

Max Magnitude

8.8

ClinVar
Risk	Rs777758903(A;A)
Alt	Rs777758903(A;A)
Reference	Rs777758903(G;G)
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.49403213G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203399.1,