rs386833783

Orientation

minus

Stabilized

minus

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

Make rs386833783(G;G)

Make rs386833783(G;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17045102

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833783
dbSNP (classic)	rs386833783
ClinGen	rs386833783
ebi	rs386833783
HLI	rs386833783
Exac	rs386833783
Gnomad	rs386833783
Varsome	rs386833783
LitVar	rs386833783
Map	rs386833783
PheGenI	rs386833783
Biobank	rs386833783
1000 genomes	rs386833783
hgdp	rs386833783
ensembl	rs386833783
geneview	rs386833783
scholar	rs386833783
google	rs386833783
pharmgkb	rs386833783
gwascentral	rs386833783
openSNP	rs386833783
23andMe	rs386833783
SNPshot	rs386833783
SNPdbe	rs386833783
MSV3d	rs386833783
GWAS Ctlg	rs386833783

Max Magnitude

0

ClinVar
Risk	rs386833783(G;G)
Alt	rs386833783(G;G)
Reference	Rs386833783(T;T)
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.17087101A>C
CLNSRC	ClinVar
CLNACC	RCV000049747.1,

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