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rs386834163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTCGGCG;CCTCGGCG) 0 common in clinvar
Make rs386834163(-;-)
Make rs386834163(-;CCTCGGCG)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930172
GeneAMN
is asnp
is mentioned by
dbSNPrs386834163
ebirs386834163
HLIrs386834163
Exacrs386834163
Varsomers386834163
Maprs386834163
PheGenIrs386834163
hapmaprs386834163
1000 genomesrs386834163
hgdprs386834163
ensemblrs386834163
gopubmedrs386834163
geneviewrs386834163
scholarrs386834163
googlers386834163
pharmgkbrs386834163
gwascentralrs386834163
openSNPrs386834163
23andMers386834163
23andMe allrs386834163
SNP Nexus

SNPshotrs386834163
SNPdbers386834163
MSV3drs386834163
GWAS Ctlgrs386834163
Max Magnitude0
ClinVar
Risk rs386834163(;)
Alt rs386834163(;)
Reference rs386834163(CCTCGGCG;CCTCGGCG)
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.103396509_103396516delCCTCGGCG
CLNSRC ClinVar
CLNACC RCV000050157.1,


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