rs121434430

Orientation

minus

Stabilized

minus

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

Make rs121434430(C;T)

Make rs121434430(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17041160

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs121434430
dbSNP (classic)	rs121434430
ClinGen	rs121434430
ebi	rs121434430
HLI	rs121434430
Exac	rs121434430
Gnomad	rs121434430
Varsome	rs121434430
LitVar	rs121434430
Map	rs121434430
PheGenI	rs121434430
Biobank	rs121434430
1000 genomes	rs121434430
hgdp	rs121434430
ensembl	rs121434430
geneview	rs121434430
scholar	rs121434430
google	rs121434430
pharmgkb	rs121434430
gwascentral	rs121434430
openSNP	rs121434430
23andMe	rs121434430
SNPshot	rs121434430
SNPdbe	rs121434430
MSV3d	rs121434430
GWAS Ctlg	rs121434430

Merged from

Rs28939699

Max Magnitude

0

OMIM	602997
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434430(T;T)
Alt	rs121434430(T;T)
Reference	Rs121434430(C;C)
Significance	Pathogenic
Disease	Megaloblastic anemia 1 Megaloblastic anemia due to inborn errors of metabolism
Variation	info
Gene	CUBN
CLNDBN	Megaloblastic anemia 1, Finnish type Megaloblastic anemia due to inborn errors of metabolism
Reversed	1
HGVS	NC_000010.10:g.17083159G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007077.2, RCV000049749.1,

[PMID 22929189] Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.