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rs386834162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCGCCCCGCCGCGGG;TCGCCCCGCCGCGGG) 0 common in clinvar
Make rs386834162(-;-)
Make rs386834162(-;TCGCCCCGCCGCGGG)
ReferenceGRCh38 38.1/141
Chromosome14
Position102930122
GeneAMN
is asnp
is mentioned by
dbSNPrs386834162
ebirs386834162
HLIrs386834162
Exacrs386834162
Varsomers386834162
Maprs386834162
PheGenIrs386834162
hapmaprs386834162
1000 genomesrs386834162
hgdprs386834162
ensemblrs386834162
gopubmedrs386834162
geneviewrs386834162
scholarrs386834162
googlers386834162
pharmgkbrs386834162
gwascentralrs386834162
openSNPrs386834162
23andMers386834162
23andMe allrs386834162
SNP Nexus

SNPshotrs386834162
SNPdbers386834162
MSV3drs386834162
GWAS Ctlgrs386834162
Max Magnitude0
ClinVar
Risk rs386834162(;)
Alt rs386834162(;)
Reference rs386834162(TCGCCCCGCCGCGGG;TCGCCCCGCCGCGGG)
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.103396459_103396473delTCGCCCCGCCGCGGG
CLNSRC ClinVar
CLNACC RCV000050156.1,


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