rs386833775

Orientation

minus

Stabilized

minus

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

Make rs386833775(-;-)

Make rs386833775(-;GAAAGAACCTGTAGGTGGA)

Reference

GRCh38 38.1/141

Chromosome

10

Position

17071518

Gene

CUBN

is a	snp
is	mentioned by
dbSNP	rs386833775
dbSNP (classic)	rs386833775
ClinGen	rs386833775
ebi	rs386833775
HLI	rs386833775
Exac	rs386833775
Gnomad	rs386833775
Varsome	rs386833775
LitVar	rs386833775
Map	rs386833775
PheGenI	rs386833775
Biobank	rs386833775
1000 genomes	rs386833775
hgdp	rs386833775
ensembl	rs386833775
geneview	rs386833775
scholar	rs386833775
google	rs386833775
pharmgkb	rs386833775
gwascentral	rs386833775
openSNP	rs386833775
23andMe	rs386833775
SNPshot	rs386833775
SNPdbe	rs386833775
MSV3d	rs386833775
GWAS Ctlg	rs386833775

Max Magnitude

0

ClinVar
Risk	rs386833775(-;-)
Alt	rs386833775(-;-)
Reference	Rs386833775(GAAAGAACCTGTAGGTGGA;GAAAGAACCTGTAGGTGGA)
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.17113517_17113535del19
CLNSRC	ClinVar
CLNACC	RCV000049740.1,

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