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rs386834169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834169(C;C)
Make rs386834169(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102928425
GeneAMN
is asnp
is mentioned by
dbSNPrs386834169
ebirs386834169
HLIrs386834169
Exacrs386834169
Varsomers386834169
Maprs386834169
PheGenIrs386834169
hapmaprs386834169
1000 genomesrs386834169
hgdprs386834169
ensemblrs386834169
gopubmedrs386834169
geneviewrs386834169
scholarrs386834169
googlers386834169
pharmgkbrs386834169
gwascentralrs386834169
openSNPrs386834169
23andMers386834169
23andMe allrs386834169
SNP Nexus

SNPshotrs386834169
SNPdbers386834169
MSV3drs386834169
GWAS Ctlgrs386834169
Max Magnitude0
ClinVar
Risk rs386834169(C;C)
Alt rs386834169(C;C)
Reference rs386834169(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.103394762G>C
CLNSRC ClinVar
CLNACC RCV000050163.1,


[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.