rs386833771

Orientation

minus

Stabilized

minus

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

Make rs386833771(-;-)

Make rs386833771(-;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17088246

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833771
dbSNP (classic)	rs386833771
ClinGen	rs386833771
ebi	rs386833771
HLI	rs386833771
Exac	rs386833771
Gnomad	rs386833771
Varsome	rs386833771
LitVar	rs386833771
Map	rs386833771
PheGenI	rs386833771
Biobank	rs386833771
1000 genomes	rs386833771
hgdp	rs386833771
ensembl	rs386833771
geneview	rs386833771
scholar	rs386833771
google	rs386833771
pharmgkb	rs386833771
gwascentral	rs386833771
openSNP	rs386833771
23andMe	rs386833771
SNPshot	rs386833771
SNPdbe	rs386833771
MSV3d	rs386833771
GWAS Ctlg	rs386833771

Max Magnitude

0

ClinVar
Risk	rs386833771(-;-)
Alt	rs386833771(-;-)
Reference	Rs386833771(C;C)
Significance	Pathogenic
Disease	Megaloblastic anemia due to inborn errors of metabolism not provided
Variation	info
Gene	CUBN
CLNDBN	Megaloblastic anemia due to inborn errors of metabolism not provided
Reversed	1
HGVS	NC_000010.10:g.17130245delG
CLNSRC	ClinVar
CLNACC	RCV000049735.1, RCV000321365.1,

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