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rs386834179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834179(-;-)
Make rs386834179(-;CCCG)
Make rs386834179(CCCG;CCCG)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930057
GeneAMN
is asnp
is mentioned by
dbSNPrs386834179
ebirs386834179
HLIrs386834179
Exacrs386834179
Varsomers386834179
Maprs386834179
PheGenIrs386834179
hapmaprs386834179
1000 genomesrs386834179
hgdprs386834179
ensemblrs386834179
gopubmedrs386834179
geneviewrs386834179
scholarrs386834179
googlers386834179
pharmgkbrs386834179
gwascentralrs386834179
openSNPrs386834179
23andMers386834179
23andMe allrs386834179
SNP Nexus

SNPshotrs386834179
SNPdbers386834179
MSV3drs386834179
GWAS Ctlgrs386834179
Max Magnitude0
ClinVar
Risk rs386834179(GCCC;GCCC)
Alt rs386834179(GCCC;GCCC)
Reference rs386834179(;)
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.103396391_103396394dupCCCG
CLNSRC ClinVar
CLNACC RCV000050174.1,


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