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rs386834165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834165(-;-)
Make rs386834165(-;A)
Make rs386834165(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930489
GeneAMN
is asnp
is mentioned by
dbSNPrs386834165
ebirs386834165
HLIrs386834165
Exacrs386834165
Varsomers386834165
Maprs386834165
PheGenIrs386834165
hapmaprs386834165
1000 genomesrs386834165
hgdprs386834165
ensemblrs386834165
gopubmedrs386834165
geneviewrs386834165
scholarrs386834165
googlers386834165
pharmgkbrs386834165
gwascentralrs386834165
openSNPrs386834165
23andMers386834165
23andMe allrs386834165
SNP Nexus

SNPshotrs386834165
SNPdbers386834165
MSV3drs386834165
GWAS Ctlgrs386834165
Max Magnitude0
ClinVar
Risk rs386834165(A;A)
Alt rs386834165(A;A)
Reference rs386834165(;)
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.103396826dupA
CLNSRC ClinVar
CLNACC RCV000050159.1,


[PMID 15024727] Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.