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rs386834178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834178(A;A)
Make rs386834178(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102929655
GeneAMN
is asnp
is mentioned by
dbSNPrs386834178
ebirs386834178
HLIrs386834178
Exacrs386834178
Varsomers386834178
Maprs386834178
PheGenIrs386834178
hapmaprs386834178
1000 genomesrs386834178
hgdprs386834178
ensemblrs386834178
gopubmedrs386834178
geneviewrs386834178
scholarrs386834178
googlers386834178
pharmgkbrs386834178
gwascentralrs386834178
openSNPrs386834178
23andMers386834178
23andMe allrs386834178
SNP Nexus

SNPshotrs386834178
SNPdbers386834178
MSV3drs386834178
GWAS Ctlgrs386834178
Max Magnitude0
ClinVar
Risk rs386834178(A;A)
Alt rs386834178(A;A)
Reference rs386834178(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.103395992G>A
CLNSRC ClinVar
CLNACC RCV000050173.1,


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