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rs672601330

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601330(A;A)
Make rs672601330(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position51986254
GeneABHD14A-ACY1, ACY1
is asnp
is mentioned by
dbSNPrs672601330
ebirs672601330
HLIrs672601330
Exacrs672601330
Varsomers672601330
Maprs672601330
PheGenIrs672601330
hapmaprs672601330
1000 genomesrs672601330
hgdprs672601330
ensemblrs672601330
gopubmedrs672601330
geneviewrs672601330
scholarrs672601330
googlers672601330
pharmgkbrs672601330
gwascentralrs672601330
openSNPrs672601330
23andMers672601330
23andMe allrs672601330
SNP Nexus

SNPshotrs672601330
SNPdbers672601330
MSV3drs672601330
GWAS Ctlgrs672601330
Max Magnitude0
ClinVar
Risk rs672601330(A;A)
Alt rs672601330(A;A)
Reference rs672601330(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.52020270G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019740.27,