Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834176(G;T)
Make rs386834176(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position102929477
GeneAMN
is asnp
is mentioned by
dbSNPrs386834176
ebirs386834176
HLIrs386834176
Exacrs386834176
Varsomers386834176
Maprs386834176
PheGenIrs386834176
hapmaprs386834176
1000 genomesrs386834176
hgdprs386834176
ensemblrs386834176
gopubmedrs386834176
geneviewrs386834176
scholarrs386834176
googlers386834176
pharmgkbrs386834176
gwascentralrs386834176
openSNPrs386834176
23andMers386834176
23andMe allrs386834176
SNP Nexus

SNPshotrs386834176
SNPdbers386834176
MSV3drs386834176
GWAS Ctlgrs386834176
Max Magnitude0
ClinVar
Risk rs386834176(T;T)
Alt rs386834176(T;T)
Reference rs386834176(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.103395814G>T
CLNSRC ClinVar
CLNACC RCV000050171.1,


[PMID 18181028] Amnionless (AMN) mutations in Imerslund-Grasbeck syndrome may be associated with disturbed vitamin B(12) transport into the CNS.