rs386833780

Orientation

minus

Stabilized

minus

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

Make rs386833780(C;G)

Make rs386833780(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17065591

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833780
dbSNP (classic)	rs386833780
ClinGen	rs386833780
ebi	rs386833780
HLI	rs386833780
Exac	rs386833780
Gnomad	rs386833780
Varsome	rs386833780
LitVar	rs386833780
Map	rs386833780
PheGenI	rs386833780
Biobank	rs386833780
1000 genomes	rs386833780
hgdp	rs386833780
ensembl	rs386833780
geneview	rs386833780
scholar	rs386833780
google	rs386833780
pharmgkb	rs386833780
gwascentral	rs386833780
openSNP	rs386833780
23andMe	rs386833780
SNPshot	rs386833780
SNPdbe	rs386833780
MSV3d	rs386833780
GWAS Ctlg	rs386833780

Max Magnitude

0

ClinVar
Risk	rs386833780(G;G)
Alt	rs386833780(G;G)
Reference	Rs386833780(C;C)
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.17107590G>C
CLNSRC	ClinVar
CLNACC	RCV000049745.1,

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