rs386833790

Orientation

minus

Stabilized

minus

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

Make rs386833790(A;A)

Make rs386833790(A;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17115518

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833790
dbSNP (classic)	rs386833790
ClinGen	rs386833790
ebi	rs386833790
HLI	rs386833790
Exac	rs386833790
Gnomad	rs386833790
Varsome	rs386833790
LitVar	rs386833790
Map	rs386833790
PheGenI	rs386833790
Biobank	rs386833790
1000 genomes	rs386833790
hgdp	rs386833790
ensembl	rs386833790
geneview	rs386833790
scholar	rs386833790
google	rs386833790
pharmgkb	rs386833790
gwascentral	rs386833790
openSNP	rs386833790
23andMe	rs386833790
SNPshot	rs386833790
SNPdbe	rs386833790
MSV3d	rs386833790
GWAS Ctlg	rs386833790

Max Magnitude

0

ClinVar
Risk	rs386833790(A;A)
Alt	rs386833790(A;A)
Reference	Rs386833790(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.17157517A>T
CLNSRC	ClinVar
CLNACC	RCV000049755.1,

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