rs761773115

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

49459448

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs761773115
dbSNP (classic)	rs761773115
ClinGen	rs761773115
ebi	rs761773115
HLI	rs761773115
Exac	rs761773115
Gnomad	rs761773115
Varsome	rs761773115
LitVar	rs761773115
Map	rs761773115
PheGenI	rs761773115
Biobank	rs761773115
1000 genomes	rs761773115
hgdp	rs761773115
ensembl	rs761773115
geneview	rs761773115
scholar	rs761773115
google	rs761773115
pharmgkb	rs761773115
gwascentral	rs761773115
openSNP	rs761773115
23andMe	rs761773115
SNPshot	rs761773115
SNPdbe	rs761773115
MSV3d	rs761773115
GWAS Ctlg	rs761773115

Max Magnitude

8.8

ClinVar
Risk	Rs761773115(A;A)
Alt	Rs761773115(A;A)
Reference	Rs761773115(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.49427161G>A
CLNSRC
CLNACC	RCV000203322.2,