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rs387906579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906579(-;-)
Make rs387906579(-;AC)
Make rs387906579(AC;AC)
ReferenceGRCh38 38.1/141
Chromosome3
Position51988953
GeneABHD14A-ACY1, ACY1
is asnp
is mentioned by
dbSNPrs387906579
ebirs387906579
HLIrs387906579
Exacrs387906579
Varsomers387906579
Maprs387906579
PheGenIrs387906579
hapmaprs387906579
1000 genomesrs387906579
hgdprs387906579
ensemblrs387906579
gopubmedrs387906579
geneviewrs387906579
scholarrs387906579
googlers387906579
pharmgkbrs387906579
gwascentralrs387906579
openSNPrs387906579
23andMers387906579
23andMe allrs387906579
SNP Nexus

SNPshotrs387906579
SNPdbers387906579
MSV3drs387906579
GWAS Ctlgrs387906579
Max Magnitude0
ClinVar
Risk rs387906579(CA;CA)
Alt rs387906579(CA;CA)
Reference rs387906579(;)
Significance Pathogenic
Disease Aminoacylase 1 deficiency
Variation info
Gene ACY1 ABHD14A-ACY1
CLNDBN Aminoacylase 1 deficiency
Reversed 0
HGVS NC_000003.11:g.52022968_52022969dupAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019737.28,