rs386833789

Orientation

minus

Stabilized

minus

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

Make rs386833789(A;A)

Make rs386833789(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17123588

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833789
dbSNP (classic)	rs386833789
ClinGen	rs386833789
ebi	rs386833789
HLI	rs386833789
Exac	rs386833789
Gnomad	rs386833789
Varsome	rs386833789
LitVar	rs386833789
Map	rs386833789
PheGenI	rs386833789
Biobank	rs386833789
1000 genomes	rs386833789
hgdp	rs386833789
ensembl	rs386833789
geneview	rs386833789
scholar	rs386833789
google	rs386833789
pharmgkb	rs386833789
gwascentral	rs386833789
openSNP	rs386833789
23andMe	rs386833789
SNPshot	rs386833789
SNPdbe	rs386833789
MSV3d	rs386833789
GWAS Ctlg	rs386833789

Max Magnitude

0

ClinVar
Risk	rs386833789(A;A)
Alt	rs386833789(A;A)
Reference	Rs386833789(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.17165587C>T
CLNSRC	ClinVar
CLNACC	RCV000049754.1,

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