rs121918249

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 38.1/141

Chromosome

6

Position

49459154

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs121918249
dbSNP (classic)	rs121918249
ClinGen	rs121918249
ebi	rs121918249
HLI	rs121918249
Exac	rs121918249
Gnomad	rs121918249
Varsome	rs121918249
LitVar	rs121918249
Map	rs121918249
PheGenI	rs121918249
Biobank	rs121918249
1000 genomes	rs121918249
hgdp	rs121918249
ensembl	rs121918249
geneview	rs121918249
scholar	rs121918249
google	rs121918249
pharmgkb	rs121918249
gwascentral	rs121918249
openSNP	rs121918249
23andMe	rs121918249
SNPshot	rs121918249
SNPdbe	rs121918249
MSV3d	rs121918249
GWAS Ctlg	rs121918249

Max Magnitude

8.8

OMIM	609058
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs121918249(C;C)
Alt	Rs121918249(C;C)
Reference	Rs121918249(T;T)
Significance	Pathogenic
Disease	METHYLMALONIC ACIDURIA Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency not provided
Variation	info
Gene	MUT
CLNDBN	METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency not provided
Reversed	1
HGVS	NC_000006.11:g.49426867A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001955.2, RCV000203407.1, RCV000374459.1,