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rs386834177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834177(C;T)
Make rs386834177(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position102929518
GeneAMN
is asnp
is mentioned by
dbSNPrs386834177
ebirs386834177
HLIrs386834177
Exacrs386834177
Varsomers386834177
Maprs386834177
PheGenIrs386834177
hapmaprs386834177
1000 genomesrs386834177
hgdprs386834177
ensemblrs386834177
gopubmedrs386834177
geneviewrs386834177
scholarrs386834177
googlers386834177
pharmgkbrs386834177
gwascentralrs386834177
openSNPrs386834177
23andMers386834177
23andMe allrs386834177
SNP Nexus

SNPshotrs386834177
SNPdbers386834177
MSV3drs386834177
GWAS Ctlgrs386834177
Max Magnitude0
ClinVar
Risk rs386834177(T;T)
Alt rs386834177(T;T)
Reference rs386834177(C;C)
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.103395855C>T
CLNSRC ClinVar
CLNACC RCV000050172.2,


[PMID 21750092OA-icon.png] Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.