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rs386834174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834174(A;A)
Make rs386834174(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102929439
GeneAMN
is asnp
is mentioned by
dbSNPrs386834174
dbSNP (classic)rs386834174
ClinGenrs386834174
ebirs386834174
HLIrs386834174
Exacrs386834174
Gnomadrs386834174
Varsomers386834174
LitVarrs386834174
Maprs386834174
PheGenIrs386834174
Biobankrs386834174
1000 genomesrs386834174
hgdprs386834174
ensemblrs386834174
geneviewrs386834174
scholarrs386834174
googlers386834174
pharmgkbrs386834174
gwascentralrs386834174
openSNPrs386834174
23andMers386834174
SNPshotrs386834174
SNPdbers386834174
MSV3drs386834174
GWAS Ctlgrs386834174
Max Magnitude0
ClinVar
Risk rs386834174(A;A)
Alt rs386834174(A;A)
Reference Rs386834174(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.103395776G>A
CLNSRC ClinVar
CLNACC RCV000050169.1,


[PMID 22631584] Imerslund-Grasbeck syndrome: new mutation in amnionless.