rs386833770

Orientation

minus

Stabilized

minus

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

Make rs386833770(-;-)

Make rs386833770(-;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17088273

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833770
dbSNP (classic)	rs386833770
ClinGen	rs386833770
ebi	rs386833770
HLI	rs386833770
Exac	rs386833770
Gnomad	rs386833770
Varsome	rs386833770
LitVar	rs386833770
Map	rs386833770
PheGenI	rs386833770
Biobank	rs386833770
1000 genomes	rs386833770
hgdp	rs386833770
ensembl	rs386833770
geneview	rs386833770
scholar	rs386833770
google	rs386833770
pharmgkb	rs386833770
gwascentral	rs386833770
openSNP	rs386833770
23andMe	rs386833770
SNPshot	rs386833770
SNPdbe	rs386833770
MSV3d	rs386833770
GWAS Ctlg	rs386833770

Max Magnitude

0

ClinVar
Risk	rs386833770(-;-)
Alt	rs386833770(-;-)
Reference	Rs386833770(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.17130272delC
CLNSRC	ClinVar
CLNACC	RCV000049734.1,

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