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rs386834166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834166(C;T)
Make rs386834166(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930503
GeneAMN
is asnp
is mentioned by
dbSNPrs386834166
ebirs386834166
HLIrs386834166
Exacrs386834166
Varsomers386834166
Maprs386834166
PheGenIrs386834166
hapmaprs386834166
1000 genomesrs386834166
hgdprs386834166
ensemblrs386834166
gopubmedrs386834166
geneviewrs386834166
scholarrs386834166
googlers386834166
pharmgkbrs386834166
gwascentralrs386834166
openSNPrs386834166
23andMers386834166
23andMe allrs386834166
SNP Nexus

SNPshotrs386834166
SNPdbers386834166
MSV3drs386834166
GWAS Ctlgrs386834166
Max Magnitude0
ClinVar
Risk rs386834166(T;T)
Alt rs386834166(T;T)
Reference rs386834166(C;C)
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.103396840C>T
CLNSRC ClinVar
CLNACC RCV000050160.1,


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