rs386833782

minus

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

Make rs386833782(C;G)

Make rs386833782(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17046533

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833782
dbSNP (classic)	rs386833782
ClinGen	rs386833782
ebi	rs386833782
HLI	rs386833782
Exac	rs386833782
Gnomad	rs386833782
Varsome	rs386833782
LitVar	rs386833782
Map	rs386833782
PheGenI	rs386833782
Biobank	rs386833782
1000 genomes	rs386833782
hgdp	rs386833782
ensembl	rs386833782
geneview	rs386833782
scholar	rs386833782
google	rs386833782
pharmgkb	rs386833782
gwascentral	rs386833782
openSNP	rs386833782
23andMe	rs386833782
SNPshot	rs386833782
SNPdbe	rs386833782
MSV3d	rs386833782
GWAS Ctlg	rs386833782

Max Magnitude

0

ClinVar
Risk	rs386833782(G;G)
Alt	rs386833782(G;G)
Reference	Rs386833782(C;C)
Significance	Probable-Pathogenic
Disease	Megaloblastic anemia due to inborn errors of metabolism
Variation	info
Gene	CUBN
CLNDBN	Megaloblastic anemia due to inborn errors of metabolism
Reversed	1
HGVS	NC_000010.10:g.17088532G>C
CLNSRC	ClinVar
CLNACC	RCV000050203.1,

[PMID 10080186] Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

[PMID 15024727] Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

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