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rs144077391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144077391(C;C)
Make rs144077391(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102929087
GeneAMN
is asnp
is mentioned by
dbSNPrs144077391
ebirs144077391
HLIrs144077391
Exacrs144077391
Varsomers144077391
Maprs144077391
PheGenIrs144077391
hapmaprs144077391
1000 genomesrs144077391
hgdprs144077391
ensemblrs144077391
gopubmedrs144077391
geneviewrs144077391
scholarrs144077391
googlers144077391
pharmgkbrs144077391
gwascentralrs144077391
openSNPrs144077391
23andMers144077391
23andMe allrs144077391
SNP Nexus

SNPshotrs144077391
SNPdbers144077391
MSV3drs144077391
GWAS Ctlgrs144077391
GMAF0.003673
Max Magnitude0
ClinVar
Risk rs144077391(A,C;A,C)
Alt rs144077391(A,C;A,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 22929189OA-icon.png] Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.