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rs121912698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912698(C;T)
Make rs121912698(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position51988821
GeneACY1
is asnp
is mentioned by
dbSNPrs121912698
ebirs121912698
HLIrs121912698
Exacrs121912698
Varsomers121912698
Maprs121912698
PheGenIrs121912698
hapmaprs121912698
1000 genomesrs121912698
hgdprs121912698
ensemblrs121912698
gopubmedrs121912698
geneviewrs121912698
scholarrs121912698
googlers121912698
pharmgkbrs121912698
gwascentralrs121912698
openSNPrs121912698
23andMers121912698
23andMe allrs121912698
SNP Nexus

SNPshotrs121912698
SNPdbers121912698
MSV3drs121912698
GWAS Ctlgrs121912698
GMAF0.0004591
Max Magnitude0
OMIM104620
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912698(T;T)
Alt rs121912698(T;T)
Reference rs121912698(C;C)
Significance Pathogenic
Disease Aminoacylase 1 deficiency
Variation info
Gene ACY1 ABHD14A-ACY1
CLNDBN Aminoacylase 1 deficiency
Reversed 0
HGVS NC_000003.11:g.52022837C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019738.28,