rs386833787

Orientation

minus

Stabilized

minus

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

Make rs386833787(A;A)

Make rs386833787(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17019833

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833787
dbSNP (classic)	rs386833787
ClinGen	rs386833787
ebi	rs386833787
HLI	rs386833787
Exac	rs386833787
Gnomad	rs386833787
Varsome	rs386833787
LitVar	rs386833787
Map	rs386833787
PheGenI	rs386833787
Biobank	rs386833787
1000 genomes	rs386833787
hgdp	rs386833787
ensembl	rs386833787
geneview	rs386833787
scholar	rs386833787
google	rs386833787
pharmgkb	rs386833787
gwascentral	rs386833787
openSNP	rs386833787
23andMe	rs386833787
SNPshot	rs386833787
SNPdbe	rs386833787
MSV3d	rs386833787
GWAS Ctlg	rs386833787

Max Magnitude

0

ClinVar
Risk	rs386833787(A;A)
Alt	rs386833787(A;A)
Reference	Rs386833787(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.17061832C>T
CLNSRC	ClinVar
CLNACC	RCV000049752.1,

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