rs12175488

Orientation

plus

Stabilized

plus

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

Make rs12175488(C;T)

Make rs12175488(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

49456163

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs12175488
dbSNP (classic)	rs12175488
ClinGen	rs12175488
ebi	rs12175488
HLI	rs12175488
Exac	rs12175488
Gnomad	rs12175488
Varsome	rs12175488
LitVar	rs12175488
Map	rs12175488
PheGenI	rs12175488
Biobank	rs12175488
1000 genomes	rs12175488
hgdp	rs12175488
ensembl	rs12175488
geneview	rs12175488
scholar	rs12175488
google	rs12175488
pharmgkb	rs12175488
gwascentral	rs12175488
openSNP	rs12175488
23andMe	rs12175488
SNPshot	rs12175488
SNPdbe	rs12175488
MSV3d	rs12175488
GWAS Ctlg	rs12175488

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs12175488(G;G) rs12175488(T;T)
Alt	rs12175488(G;G) rs12175488(T;T)
Reference	Rs12175488(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.49423876C>G
CLNSRC
CLNACC	RCV000236687.1,