rs386833772

Orientation

minus

Stabilized

minus

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

Make rs386833772(A;G)

Make rs386833772(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17085639

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833772
dbSNP (classic)	rs386833772
ClinGen	rs386833772
ebi	rs386833772
HLI	rs386833772
Exac	rs386833772
Gnomad	rs386833772
Varsome	rs386833772
LitVar	rs386833772
Map	rs386833772
PheGenI	rs386833772
Biobank	rs386833772
1000 genomes	rs386833772
hgdp	rs386833772
ensembl	rs386833772
geneview	rs386833772
scholar	rs386833772
google	rs386833772
pharmgkb	rs386833772
gwascentral	rs386833772
openSNP	rs386833772
23andMe	rs386833772
SNPshot	rs386833772
SNPdbe	rs386833772
MSV3d	rs386833772
GWAS Ctlg	rs386833772

Max Magnitude

0

ClinVar
Risk	rs386833772(G;G)
Alt	rs386833772(G;G)
Reference	Rs386833772(A;A)
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.17127638T>C
CLNSRC	ClinVar
CLNACC	RCV000049737.1,

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