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rs386834173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834173(-;-)
Make rs386834173(-;T)
Make rs386834173(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position102928930
GeneAMN
is asnp
is mentioned by
dbSNPrs386834173
ebirs386834173
HLIrs386834173
Exacrs386834173
Varsomers386834173
Maprs386834173
PheGenIrs386834173
hapmaprs386834173
1000 genomesrs386834173
hgdprs386834173
ensemblrs386834173
gopubmedrs386834173
geneviewrs386834173
scholarrs386834173
googlers386834173
pharmgkbrs386834173
gwascentralrs386834173
openSNPrs386834173
23andMers386834173
23andMe allrs386834173
SNP Nexus

SNPshotrs386834173
SNPdbers386834173
MSV3drs386834173
GWAS Ctlgrs386834173
Max Magnitude0
ClinVar
Risk rs386834173(T;T)
Alt rs386834173(T;T)
Reference rs386834173(;)
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.103395267dupT
CLNSRC ClinVar
CLNACC RCV000050167.1,


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