rs386833769

Orientation

minus

Stabilized

minus

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

Make rs386833769(A;A)

Make rs386833769(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17103125

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833769
dbSNP (classic)	rs386833769
ClinGen	rs386833769
ebi	rs386833769
HLI	rs386833769
Exac	rs386833769
Gnomad	rs386833769
Varsome	rs386833769
LitVar	rs386833769
Map	rs386833769
PheGenI	rs386833769
Biobank	rs386833769
1000 genomes	rs386833769
hgdp	rs386833769
ensembl	rs386833769
geneview	rs386833769
scholar	rs386833769
google	rs386833769
pharmgkb	rs386833769
gwascentral	rs386833769
openSNP	rs386833769
23andMe	rs386833769
SNPshot	rs386833769
SNPdbe	rs386833769
MSV3d	rs386833769
GWAS Ctlg	rs386833769

Max Magnitude

0

ClinVar
Risk	rs386833769(A;A)
Alt	rs386833769(A;A)
Reference	Rs386833769(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.17145124C>T
CLNSRC	ClinVar
CLNACC	RCV000049733.1,

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