rs386833781

Orientation

minus

Stabilized

minus

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

Make rs386833781(-;-)

Make rs386833781(-;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17065551

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833781
dbSNP (classic)	rs386833781
ClinGen	rs386833781
ebi	rs386833781
HLI	rs386833781
Exac	rs386833781
Gnomad	rs386833781
Varsome	rs386833781
LitVar	rs386833781
Map	rs386833781
PheGenI	rs386833781
Biobank	rs386833781
1000 genomes	rs386833781
hgdp	rs386833781
ensembl	rs386833781
geneview	rs386833781
scholar	rs386833781
google	rs386833781
pharmgkb	rs386833781
gwascentral	rs386833781
openSNP	rs386833781
23andMe	rs386833781
SNPshot	rs386833781
SNPdbe	rs386833781
MSV3d	rs386833781
GWAS Ctlg	rs386833781

Max Magnitude

0

ClinVar
Risk	rs386833781(-;-)
Alt	rs386833781(-;-)
Reference	Rs386833781(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.17107550delA
CLNSRC	ClinVar
CLNACC	RCV000049746.1,

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