rs547709692

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs547709692(A;A)

Make rs547709692(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

49456101

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs547709692
dbSNP (classic)	rs547709692
ClinGen	rs547709692
ebi	rs547709692
HLI	rs547709692
Exac	rs547709692
Gnomad	rs547709692
Varsome	rs547709692
LitVar	rs547709692
Map	rs547709692
PheGenI	rs547709692
Biobank	rs547709692
1000 genomes	rs547709692
hgdp	rs547709692
ensembl	rs547709692
geneview	rs547709692
scholar	rs547709692
google	rs547709692
pharmgkb	rs547709692
gwascentral	rs547709692
openSNP	rs547709692
23andMe	rs547709692
SNPshot	rs547709692
SNPdbe	rs547709692
MSV3d	rs547709692
GWAS Ctlg	rs547709692

Max Magnitude

0

ClinVar
Risk	rs547709692(A;A)
Alt	rs547709692(A;A)
Reference	Rs547709692(G;G)
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.49423814G>A
CLNSRC
CLNACC	RCV000210836.1,