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rs121912700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912700(C;T)
Make rs121912700(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position51986993
GeneACY1
is asnp
is mentioned by
dbSNPrs121912700
ebirs121912700
HLIrs121912700
Exacrs121912700
Varsomers121912700
Maprs121912700
PheGenIrs121912700
hapmaprs121912700
1000 genomesrs121912700
hgdprs121912700
ensemblrs121912700
gopubmedrs121912700
geneviewrs121912700
scholarrs121912700
googlers121912700
pharmgkbrs121912700
gwascentralrs121912700
openSNPrs121912700
23andMers121912700
23andMe allrs121912700
SNP Nexus

SNPshotrs121912700
SNPdbers121912700
MSV3drs121912700
GWAS Ctlgrs121912700
Max Magnitude0
OMIM104620
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912700(T;T)
Alt rs121912700(T;T)
Reference rs121912700(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.52021009C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019741.28,