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rs386834170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834170(A;G)
Make rs386834170(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102928424
GeneAMN
is asnp
is mentioned by
dbSNPrs386834170
ebirs386834170
HLIrs386834170
Exacrs386834170
Varsomers386834170
Maprs386834170
PheGenIrs386834170
hapmaprs386834170
1000 genomesrs386834170
hgdprs386834170
ensemblrs386834170
gopubmedrs386834170
geneviewrs386834170
scholarrs386834170
googlers386834170
pharmgkbrs386834170
gwascentralrs386834170
openSNPrs386834170
23andMers386834170
23andMe allrs386834170
SNP Nexus

SNPshotrs386834170
SNPdbers386834170
MSV3drs386834170
GWAS Ctlgrs386834170
Max Magnitude0
ClinVar
Risk rs386834170(G;G)
Alt rs386834170(G;G)
Reference rs386834170(A;A)
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.103394761A>G
CLNSRC ClinVar
CLNACC RCV000050164.2,


[PMID 12590260] Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.


[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.


[PMID 17114957] Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function.


[PMID 17285242] Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.


[PMID 22078000OA-icon.png] Ancient founder mutation is responsible for Imerslund-Grasbeck Syndrome among diverse ethnicities.