rs386833786

Orientation

minus

Stabilized

minus

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

Make rs386833786(C;G)

Make rs386833786(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17019886

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833786
dbSNP (classic)	rs386833786
ClinGen	rs386833786
ebi	rs386833786
HLI	rs386833786
Exac	rs386833786
Gnomad	rs386833786
Varsome	rs386833786
LitVar	rs386833786
Map	rs386833786
PheGenI	rs386833786
Biobank	rs386833786
1000 genomes	rs386833786
hgdp	rs386833786
ensembl	rs386833786
geneview	rs386833786
scholar	rs386833786
google	rs386833786
pharmgkb	rs386833786
gwascentral	rs386833786
openSNP	rs386833786
23andMe	rs386833786
SNPshot	rs386833786
SNPdbe	rs386833786
MSV3d	rs386833786
GWAS Ctlg	rs386833786

Max Magnitude

0

ClinVar
Risk	rs386833786(G;G)
Alt	rs386833786(G;G)
Reference	Rs386833786(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.17061885G>C
CLNSRC	ClinVar
CLNACC	RCV000049751.1,

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