rs386833784

Orientation

minus

Stabilized

minus

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

Make rs386833784(C;T)

Make rs386833784(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17043907

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833784
dbSNP (classic)	rs386833784
ClinGen	rs386833784
ebi	rs386833784
HLI	rs386833784
Exac	rs386833784
Gnomad	rs386833784
Varsome	rs386833784
LitVar	rs386833784
Map	rs386833784
PheGenI	rs386833784
Biobank	rs386833784
1000 genomes	rs386833784
hgdp	rs386833784
ensembl	rs386833784
geneview	rs386833784
scholar	rs386833784
google	rs386833784
pharmgkb	rs386833784
gwascentral	rs386833784
openSNP	rs386833784
23andMe	rs386833784
SNPshot	rs386833784
SNPdbe	rs386833784
MSV3d	rs386833784
GWAS Ctlg	rs386833784

Max Magnitude

0

ClinVar
Risk	rs386833784(T;T)
Alt	rs386833784(T;T)
Reference	Rs386833784(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.17085906G>A
CLNSRC	ClinVar
CLNACC	RCV000049748.1,

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