rs864309738

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

49447677

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs864309738
dbSNP (classic)	rs864309738
ClinGen	rs864309738
ebi	rs864309738
HLI	rs864309738
Exac	rs864309738
Gnomad	rs864309738
Varsome	rs864309738
LitVar	rs864309738
Map	rs864309738
PheGenI	rs864309738
Biobank	rs864309738
1000 genomes	rs864309738
hgdp	rs864309738
ensembl	rs864309738
geneview	rs864309738
scholar	rs864309738
google	rs864309738
pharmgkb	rs864309738
gwascentral	rs864309738
openSNP	rs864309738
23andMe	rs864309738
SNPshot	rs864309738
SNPdbe	rs864309738
MSV3d	rs864309738
GWAS Ctlg	rs864309738

Max Magnitude

8.8

ClinVar
Risk	Rs864309738(C;C)
Alt	Rs864309738(C;C)
Reference	Rs864309738(T;T)
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	1
HGVS	NC_000006.11:g.49415390A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203325.2,