rs386833768

Orientation

minus

Stabilized

minus

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

Make rs386833768(-;-)

Make rs386833768(-;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17103129

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833768
dbSNP (classic)	rs386833768
ClinGen	rs386833768
ebi	rs386833768
HLI	rs386833768
Exac	rs386833768
Gnomad	rs386833768
Varsome	rs386833768
LitVar	rs386833768
Map	rs386833768
PheGenI	rs386833768
Biobank	rs386833768
1000 genomes	rs386833768
hgdp	rs386833768
ensembl	rs386833768
geneview	rs386833768
scholar	rs386833768
google	rs386833768
pharmgkb	rs386833768
gwascentral	rs386833768
openSNP	rs386833768
23andMe	rs386833768
SNPshot	rs386833768
SNPdbe	rs386833768
MSV3d	rs386833768
GWAS Ctlg	rs386833768

Max Magnitude

0

ClinVar
Risk	rs386833768(-;-)
Alt	rs386833768(-;-)
Reference	Rs386833768(G;G)
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.17145128delC
CLNSRC	ClinVar
CLNACC	RCV000049732.1,

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