rs386833777

Orientation

minus

Stabilized

minus

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

Make rs386833777(-;-)

Make rs386833777(-;GA)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17071436

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833777
dbSNP (classic)	rs386833777
ClinGen	rs386833777
ebi	rs386833777
HLI	rs386833777
Exac	rs386833777
Gnomad	rs386833777
Varsome	rs386833777
LitVar	rs386833777
Map	rs386833777
PheGenI	rs386833777
Biobank	rs386833777
1000 genomes	rs386833777
hgdp	rs386833777
ensembl	rs386833777
geneview	rs386833777
scholar	rs386833777
google	rs386833777
pharmgkb	rs386833777
gwascentral	rs386833777
openSNP	rs386833777
23andMe	rs386833777
SNPshot	rs386833777
SNPdbe	rs386833777
MSV3d	rs386833777
GWAS Ctlg	rs386833777

Max Magnitude

0

ClinVar
Risk	rs386833777(-;-)
Alt	rs386833777(-;-)
Reference	Rs386833777(GA;GA)
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.17113435_17113436delTC
CLNSRC	ClinVar
CLNACC	RCV000049742.1,

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