rs386833791

Orientation

minus

Stabilized

minus

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

Make rs386833791(C;T)

Make rs386833791(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17111045

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833791
dbSNP (classic)	rs386833791
ClinGen	rs386833791
ebi	rs386833791
HLI	rs386833791
Exac	rs386833791
Gnomad	rs386833791
Varsome	rs386833791
LitVar	rs386833791
Map	rs386833791
PheGenI	rs386833791
Biobank	rs386833791
1000 genomes	rs386833791
hgdp	rs386833791
ensembl	rs386833791
geneview	rs386833791
scholar	rs386833791
google	rs386833791
pharmgkb	rs386833791
gwascentral	rs386833791
openSNP	rs386833791
23andMe	rs386833791
SNPshot	rs386833791
SNPdbe	rs386833791
MSV3d	rs386833791
GWAS Ctlg	rs386833791

Max Magnitude

0

ClinVar
Risk	rs386833791(T;T)
Alt	rs386833791(T;T)
Reference	Rs386833791(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.17153044G>A
CLNSRC	ClinVar
CLNACC	RCV000049756.1,

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