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rs121912701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912701(A;A)
Make rs121912701(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position51989026
GeneACY1
is asnp
is mentioned by
dbSNPrs121912701
ebirs121912701
HLIrs121912701
Exacrs121912701
Varsomers121912701
Maprs121912701
PheGenIrs121912701
hapmaprs121912701
1000 genomesrs121912701
hgdprs121912701
ensemblrs121912701
gopubmedrs121912701
geneviewrs121912701
scholarrs121912701
googlers121912701
pharmgkbrs121912701
gwascentralrs121912701
openSNPrs121912701
23andMers121912701
23andMe allrs121912701
SNP Nexus

SNPshotrs121912701
SNPdbers121912701
MSV3drs121912701
GWAS Ctlgrs121912701
GMAF0.004132
Max Magnitude0
OMIM104620
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912701(A;A)
Alt rs121912701(A;A)
Reference rs121912701(G;G)
Significance Pathogenic
Disease Aminoacylase 1 deficiency
Variation info
Gene ACY1 ABHD14A-ACY1
CLNDBN Aminoacylase 1 deficiency
Reversed 0
HGVS NC_000003.11:g.52023042G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019742.28,