rs121918255

Orientation

minus

Stabilized

minus

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

Make rs121918255(C;C)

Make rs121918255(C;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

49435473

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs121918255
dbSNP (classic)	rs121918255
ClinGen	rs121918255
ebi	rs121918255
HLI	rs121918255
Exac	rs121918255
Gnomad	rs121918255
Varsome	rs121918255
LitVar	rs121918255
Map	rs121918255
PheGenI	rs121918255
Biobank	rs121918255
1000 genomes	rs121918255
hgdp	rs121918255
ensembl	rs121918255
geneview	rs121918255
scholar	rs121918255
google	rs121918255
pharmgkb	rs121918255
gwascentral	rs121918255
openSNP	rs121918255
23andMe	rs121918255
SNPshot	rs121918255
SNPdbe	rs121918255
MSV3d	rs121918255
GWAS Ctlg	rs121918255

Max Magnitude

0

OMIM	609058
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918255(C;C)
Alt	rs121918255(C;C)
Reference	Rs121918255(G;G)
Significance	Pathogenic
Disease	METHYLMALONIC ACIDURIA
Variation	info
Gene	MUT
CLNDBN	METHYLMALONIC ACIDURIA, mut(0) TYPE
Reversed	1
HGVS	NC_000006.11:g.49403186C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001962.3,