rs386834171

Orientation

plus

Stabilized

plus

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

Make rs386834171(-;-)

Make rs386834171(-;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102928513

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs386834171
dbSNP (classic)	rs386834171
ClinGen	rs386834171
ebi	rs386834171
HLI	rs386834171
Exac	rs386834171
Gnomad	rs386834171
Varsome	rs386834171
LitVar	rs386834171
Map	rs386834171
PheGenI	rs386834171
Biobank	rs386834171
1000 genomes	rs386834171
hgdp	rs386834171
ensembl	rs386834171
geneview	rs386834171
scholar	rs386834171
google	rs386834171
pharmgkb	rs386834171
gwascentral	rs386834171
openSNP	rs386834171
23andMe	rs386834171
SNPshot	rs386834171
SNPdbe	rs386834171
MSV3d	rs386834171
GWAS Ctlg	rs386834171

Max Magnitude

0

ClinVar
Risk	rs386834171(-;-)
Alt	rs386834171(-;-)
Reference	Rs386834171(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.103394850delG
CLNSRC	ClinVar
CLNACC	RCV000050165.1,

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