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rs386834168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834168(-;-)
Make rs386834168(-;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102922702
GeneAMN
is asnp
is mentioned by
dbSNPrs386834168
ebirs386834168
HLIrs386834168
Exacrs386834168
Varsomers386834168
Maprs386834168
PheGenIrs386834168
hapmaprs386834168
1000 genomesrs386834168
hgdprs386834168
ensemblrs386834168
gopubmedrs386834168
geneviewrs386834168
scholarrs386834168
googlers386834168
pharmgkbrs386834168
gwascentralrs386834168
openSNPrs386834168
23andMers386834168
23andMe allrs386834168
SNP Nexus

SNPshotrs386834168
SNPdbers386834168
MSV3drs386834168
GWAS Ctlgrs386834168
Max Magnitude0
ClinVar
Risk rs386834168(;)
Alt rs386834168(;)
Reference rs386834168(G;G)
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.103389039delG
CLNSRC ClinVar
CLNACC RCV000050162.1,


[PMID 12590260] Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.