rs140600746

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

49435481

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs140600746
dbSNP (classic)	rs140600746
ClinGen	rs140600746
ebi	rs140600746
HLI	rs140600746
Exac	rs140600746
Gnomad	rs140600746
Varsome	rs140600746
LitVar	rs140600746
Map	rs140600746
PheGenI	rs140600746
Biobank	rs140600746
1000 genomes	rs140600746
hgdp	rs140600746
ensembl	rs140600746
geneview	rs140600746
scholar	rs140600746
google	rs140600746
pharmgkb	rs140600746
gwascentral	rs140600746
openSNP	rs140600746
23andMe	rs140600746
SNPshot	rs140600746
SNPdbe	rs140600746
MSV3d	rs140600746
GWAS Ctlg	rs140600746

Max Magnitude

8.8

ClinVar
Risk	Rs140600746(T;T)
Alt	Rs140600746(T;T)
Reference	Rs140600746(A;A)
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.49403194A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203324.1,