rs386833776

Orientation

minus

Stabilized

minus

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

Make rs386833776(A;A)

Make rs386833776(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17129120

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833776
dbSNP (classic)	rs386833776
ClinGen	rs386833776
ebi	rs386833776
HLI	rs386833776
Exac	rs386833776
Gnomad	rs386833776
Varsome	rs386833776
LitVar	rs386833776
Map	rs386833776
PheGenI	rs386833776
Biobank	rs386833776
1000 genomes	rs386833776
hgdp	rs386833776
ensembl	rs386833776
geneview	rs386833776
scholar	rs386833776
google	rs386833776
pharmgkb	rs386833776
gwascentral	rs386833776
openSNP	rs386833776
23andMe	rs386833776
SNPshot	rs386833776
SNPdbe	rs386833776
MSV3d	rs386833776
GWAS Ctlg	rs386833776

Max Magnitude

0

ClinVar
Risk	rs386833776(A;A)
Alt	rs386833776(A;A)
Reference	Rs386833776(G;G)
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.17171119C>T
CLNSRC	ClinVar
CLNACC	RCV000049741.1,

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