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rs386834164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834164(C;T)
Make rs386834164(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930400
GeneAMN
is asnp
is mentioned by
dbSNPrs386834164
ebirs386834164
HLIrs386834164
Exacrs386834164
Varsomers386834164
Maprs386834164
PheGenIrs386834164
hapmaprs386834164
1000 genomesrs386834164
hgdprs386834164
ensemblrs386834164
gopubmedrs386834164
geneviewrs386834164
scholarrs386834164
googlers386834164
pharmgkbrs386834164
gwascentralrs386834164
openSNPrs386834164
23andMers386834164
23andMe allrs386834164
SNP Nexus

SNPshotrs386834164
SNPdbers386834164
MSV3drs386834164
GWAS Ctlgrs386834164
Max Magnitude0
ClinVar
Risk rs386834164(T;T)
Alt rs386834164(T;T)
Reference rs386834164(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.103396737C>T
CLNSRC ClinVar
CLNACC RCV000050158.1,


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