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rs386834161

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTCGCCCCGCCGCG;CCTCGCCCCGCCGCG) 0 common in clinvar
(CGCCCCGCCGCGCCT;CGCCCCGCCGCGCCT) 0 common in clinvar
Make rs386834161(-;-)
Make rs386834161(-;CCTCGCCCCGCCGCG)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930120
GeneAMN
is asnp
is mentioned by
dbSNPrs386834161
ebirs386834161
HLIrs386834161
Exacrs386834161
Varsomers386834161
Maprs386834161
PheGenIrs386834161
hapmaprs386834161
1000 genomesrs386834161
hgdprs386834161
ensemblrs386834161
gopubmedrs386834161
geneviewrs386834161
scholarrs386834161
googlers386834161
pharmgkbrs386834161
gwascentralrs386834161
openSNPrs386834161
23andMers386834161
23andMe allrs386834161
SNP Nexus

SNPshotrs386834161
SNPdbers386834161
MSV3drs386834161
GWAS Ctlgrs386834161
Max Magnitude0
ClinVar
Risk rs386834161(;)
Alt rs386834161(;)
Reference rs386834161(CGCCCCGCCGCGCCT;CGCCCCGCCGCGCCT)
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.103396457_103396471delCCTCGCCCCGCCGCG
CLNSRC ClinVar
CLNACC RCV000050155.1,


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