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rs672601350

From SNPedia

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Geno Mag Summary
(TGTGAG;TGTGAG) 0 common in clinvar
Make rs672601350(-;-)
Make rs672601350(-;TGTGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position51988603
GeneABHD14A-ACY1, ACY1
is asnp
is mentioned by
dbSNPrs672601350
ebirs672601350
HLIrs672601350
Exacrs672601350
Varsomers672601350
Maprs672601350
PheGenIrs672601350
hapmaprs672601350
1000 genomesrs672601350
hgdprs672601350
ensemblrs672601350
gopubmedrs672601350
geneviewrs672601350
scholarrs672601350
googlers672601350
pharmgkbrs672601350
gwascentralrs672601350
openSNPrs672601350
23andMers672601350
23andMe allrs672601350
SNP Nexus

SNPshotrs672601350
SNPdbers672601350
MSV3drs672601350
GWAS Ctlgrs672601350
Max Magnitude0
ClinVar
Risk rs672601350(;)
Alt rs672601350(;)
Reference rs672601350(TGTGAG;TGTGAG)
Significance Pathogenic
Disease Aminoacylase 1 deficiency
Variation info
Gene ACY1 ABHD14A-ACY1
CLNDBN Aminoacylase 1 deficiency
Reversed 0
HGVS NC_000003.11:g.52022619_52022624delTGTGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000149440.2,