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rs386834171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834171(-;-)
Make rs386834171(-;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102928513
GeneAMN
is asnp
is mentioned by
dbSNPrs386834171
ebirs386834171
HLIrs386834171
Exacrs386834171
Varsomers386834171
Maprs386834171
PheGenIrs386834171
hapmaprs386834171
1000 genomesrs386834171
hgdprs386834171
ensemblrs386834171
gopubmedrs386834171
geneviewrs386834171
scholarrs386834171
googlers386834171
pharmgkbrs386834171
gwascentralrs386834171
openSNPrs386834171
23andMers386834171
23andMe allrs386834171
SNP Nexus

SNPshotrs386834171
SNPdbers386834171
MSV3drs386834171
GWAS Ctlgrs386834171
Max Magnitude0
ClinVar
Risk rs386834171(;)
Alt rs386834171(;)
Reference rs386834171(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.103394850delG
CLNSRC ClinVar
CLNACC RCV000050165.1,


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