Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs386834167(-;-)
Make rs386834167(-;CA)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930632
GeneAMN
is asnp
is mentioned by
dbSNPrs386834167
ebirs386834167
HLIrs386834167
Exacrs386834167
Varsomers386834167
Maprs386834167
PheGenIrs386834167
hapmaprs386834167
1000 genomesrs386834167
hgdprs386834167
ensemblrs386834167
gopubmedrs386834167
geneviewrs386834167
scholarrs386834167
googlers386834167
pharmgkbrs386834167
gwascentralrs386834167
openSNPrs386834167
23andMers386834167
23andMe allrs386834167
SNP Nexus

SNPshotrs386834167
SNPdbers386834167
MSV3drs386834167
GWAS Ctlgrs386834167
Max Magnitude0
ClinVar
Risk rs386834167(;)
Alt rs386834167(;)
Reference rs386834167(CA;CA)
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.103396969_103396970delCA
CLNSRC ClinVar
CLNACC RCV000050161.1,


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