Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912699(A;C)
Make rs121912699(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position51987188
GeneACY1
is asnp
is mentioned by
dbSNPrs121912699
ebirs121912699
HLIrs121912699
Exacrs121912699
Varsomers121912699
Maprs121912699
PheGenIrs121912699
hapmaprs121912699
1000 genomesrs121912699
hgdprs121912699
ensemblrs121912699
gopubmedrs121912699
geneviewrs121912699
scholarrs121912699
googlers121912699
pharmgkbrs121912699
gwascentralrs121912699
openSNPrs121912699
23andMers121912699
23andMe allrs121912699
SNP Nexus

SNPshotrs121912699
SNPdbers121912699
MSV3drs121912699
GWAS Ctlgrs121912699
Max Magnitude0
OMIM104620
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912699(C;C)
Alt rs121912699(C;C)
Reference rs121912699(A;A)
Significance Pathogenic
Disease Aminoacylase 1 deficiency
Variation info
Gene ACY1 ABHD14A-ACY1
CLNDBN Aminoacylase 1 deficiency
Reversed 0
HGVS NC_000003.11:g.52021204A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019739.27,