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rs386834172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834172(G;T)
Make rs386834172(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position102922732
GeneAMN
is asnp
is mentioned by
dbSNPrs386834172
ebirs386834172
HLIrs386834172
Exacrs386834172
Varsomers386834172
Maprs386834172
PheGenIrs386834172
hapmaprs386834172
1000 genomesrs386834172
hgdprs386834172
ensemblrs386834172
gopubmedrs386834172
geneviewrs386834172
scholarrs386834172
googlers386834172
pharmgkbrs386834172
gwascentralrs386834172
openSNPrs386834172
23andMers386834172
23andMe allrs386834172
SNP Nexus

SNPshotrs386834172
SNPdbers386834172
MSV3drs386834172
GWAS Ctlgrs386834172
Max Magnitude0
ClinVar
Risk rs386834172(T;T)
Alt rs386834172(T;T)
Reference rs386834172(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.103389069G>T
CLNSRC ClinVar
CLNACC RCV000050166.1,


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