rs121913578

Orientation

plus

Stabilized

plus

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

Make rs121913578(C;T)

Make rs121913578(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

236895470

Gene

MTR

is a	snp
is	mentioned by
dbSNP	rs121913578
dbSNP (classic)	rs121913578
ClinGen	rs121913578
ebi	rs121913578
HLI	rs121913578
Exac	rs121913578
Gnomad	rs121913578
Varsome	rs121913578
LitVar	rs121913578
Map	rs121913578
PheGenI	rs121913578
Biobank	rs121913578
1000 genomes	rs121913578
hgdp	rs121913578
ensembl	rs121913578
geneview	rs121913578
scholar	rs121913578
google	rs121913578
pharmgkb	rs121913578
gwascentral	rs121913578
openSNP	rs121913578
23andMe	rs121913578
SNPshot	rs121913578
SNPdbe	rs121913578
MSV3d	rs121913578
GWAS Ctlg	rs121913578

Max Magnitude

0

OMIM	156570
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121913578(T;T)
Alt	rs121913578(T;T)
Reference	Rs121913578(C;C)
Significance	Pathogenic
Disease	METHYLCOBALAMIN DEFICIENCY Intellectual disability Seizure disorder Inborn genetic diseases not provided
Variation	info
Gene	MTR
CLNDBN	METHYLCOBALAMIN DEFICIENCY, cblG TYPE Intellectual disability, profound Seizure disorder Inborn genetic diseases not provided
Reversed	0
HGVS	NC_000001.10:g.237058770C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015348.26, RCV000162189.1, RCV000210576.1, RCV000414734.1,