rs757000253

Orientation

plus

Stabilized

plus

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

Make rs757000253(A;A)

Make rs757000253(A;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

49457977

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs757000253
dbSNP (classic)	rs757000253
ClinGen	rs757000253
ebi	rs757000253
HLI	rs757000253
Exac	rs757000253
Gnomad	rs757000253
Varsome	rs757000253
LitVar	rs757000253
Map	rs757000253
PheGenI	rs757000253
Biobank	rs757000253
1000 genomes	rs757000253
hgdp	rs757000253
ensembl	rs757000253
geneview	rs757000253
scholar	rs757000253
google	rs757000253
pharmgkb	rs757000253
gwascentral	rs757000253
openSNP	rs757000253
23andMe	rs757000253
SNPshot	rs757000253
SNPdbe	rs757000253
MSV3d	rs757000253
GWAS Ctlg	rs757000253

Max Magnitude

0

ClinVar
Risk	rs757000253(A;A)
Alt	rs757000253(A;A)
Reference	Rs757000253(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	0
HGVS	NC_000006.11:g.49425690T>A
CLNSRC
CLNACC	RCV000235227.1,