rs864309736

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

49457753

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs864309736
dbSNP (classic)	rs864309736
ClinGen	rs864309736
ebi	rs864309736
HLI	rs864309736
Exac	rs864309736
Gnomad	rs864309736
Varsome	rs864309736
LitVar	rs864309736
Map	rs864309736
PheGenI	rs864309736
Biobank	rs864309736
1000 genomes	rs864309736
hgdp	rs864309736
ensembl	rs864309736
geneview	rs864309736
scholar	rs864309736
google	rs864309736
pharmgkb	rs864309736
gwascentral	rs864309736
openSNP	rs864309736
23andMe	rs864309736
SNPshot	rs864309736
SNPdbe	rs864309736
MSV3d	rs864309736
GWAS Ctlg	rs864309736

Max Magnitude

8.8

ClinVar
Risk	Rs864309736(A;A)
Alt	Rs864309736(A;A)
Reference	Rs864309736(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.49425466A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203354.1,