rs386834167

Orientation

plus

Stabilized

plus

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

Make rs386834167(-;-)

Make rs386834167(-;CA)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102930632

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs386834167
dbSNP (classic)	rs386834167
ClinGen	rs386834167
ebi	rs386834167
HLI	rs386834167
Exac	rs386834167
Gnomad	rs386834167
Varsome	rs386834167
LitVar	rs386834167
Map	rs386834167
PheGenI	rs386834167
Biobank	rs386834167
1000 genomes	rs386834167
hgdp	rs386834167
ensembl	rs386834167
geneview	rs386834167
scholar	rs386834167
google	rs386834167
pharmgkb	rs386834167
gwascentral	rs386834167
openSNP	rs386834167
23andMe	rs386834167
SNPshot	rs386834167
SNPdbe	rs386834167
MSV3d	rs386834167
GWAS Ctlg	rs386834167

Max Magnitude

0

ClinVar
Risk	rs386834167(-;-)
Alt	rs386834167(-;-)
Reference	Rs386834167(CA;CA)
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.103396969_103396970delCA
CLNSRC	ClinVar
CLNACC	RCV000050161.1,

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