rs778702777

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

49457837

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs778702777
dbSNP (classic)	rs778702777
ClinGen	rs778702777
ebi	rs778702777
HLI	rs778702777
Exac	rs778702777
Gnomad	rs778702777
Varsome	rs778702777
LitVar	rs778702777
Map	rs778702777
PheGenI	rs778702777
Biobank	rs778702777
1000 genomes	rs778702777
hgdp	rs778702777
ensembl	rs778702777
geneview	rs778702777
scholar	rs778702777
google	rs778702777
pharmgkb	rs778702777
gwascentral	rs778702777
openSNP	rs778702777
23andMe	rs778702777
SNPshot	rs778702777
SNPdbe	rs778702777
MSV3d	rs778702777
GWAS Ctlg	rs778702777

Max Magnitude

8.8

ClinVar
Risk	Rs778702777(T;T)
Alt	Rs778702777(T;T)
Reference	Rs778702777(C;C)
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.49425550C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203339.1,