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rs386834160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCATCCCGCCCCGCC;CCATCCCGCCCCGCC) 0 common in clinvar
(CCCGCCCCATCCCGC;CCCGCCCCATCCCGC) 0 common in clinvar
Make rs386834160(-;-)
Make rs386834160(-;CCATCCCGCCCCGCC)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930102
GeneAMN
is asnp
is mentioned by
dbSNPrs386834160
ebirs386834160
HLIrs386834160
Exacrs386834160
Varsomers386834160
Maprs386834160
PheGenIrs386834160
hapmaprs386834160
1000 genomesrs386834160
hgdprs386834160
ensemblrs386834160
gopubmedrs386834160
geneviewrs386834160
scholarrs386834160
googlers386834160
pharmgkbrs386834160
gwascentralrs386834160
openSNPrs386834160
23andMers386834160
23andMe allrs386834160
SNP Nexus

SNPshotrs386834160
SNPdbers386834160
MSV3drs386834160
GWAS Ctlgrs386834160
Max Magnitude0
ClinVar
Risk rs386834160(;)
Alt rs386834160(;)
Reference rs386834160(CCCGCCCCATCCCGC;CCCGCCCCATCCCGC)
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.103396439_103396453delCCATCCCGCCCCGCC
CLNSRC ClinVar
CLNACC RCV000050154.1,


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