rs144077391

Orientation

plus

Stabilized

plus

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

Make rs144077391(C;C)

Make rs144077391(C;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102929087

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs144077391
dbSNP (classic)	rs144077391
ClinGen	rs144077391
ebi	rs144077391
HLI	rs144077391
Exac	rs144077391
Gnomad	rs144077391
Varsome	rs144077391
LitVar	rs144077391
Map	rs144077391
PheGenI	rs144077391
Biobank	rs144077391
1000 genomes	rs144077391
hgdp	rs144077391
ensembl	rs144077391
geneview	rs144077391
scholar	rs144077391
google	rs144077391
pharmgkb	rs144077391
gwascentral	rs144077391
openSNP	rs144077391
23andMe	rs144077391
SNPshot	rs144077391
SNPdbe	rs144077391
MSV3d	rs144077391
GWAS Ctlg	rs144077391

GMAF

0.003673

Max Magnitude

0

ClinVar
Risk	rs144077391(A;A) rs144077391(C;C)
Alt	rs144077391(A;A) rs144077391(C;C)
Reference	Rs144077391(G;G)
Significance	Probable-Pathogenic
Disease	Megaloblastic anemia due to inborn errors of metabolism
Variation	info
Gene	AMN
CLNDBN	Megaloblastic anemia due to inborn errors of metabolism
Reversed	0
HGVS	NC_000014.8:g.103395424G>A
CLNSRC	ClinVar
CLNACC	RCV000050168.1,

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