rs387906579

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs387906579(-;AC)

Make rs387906579(AC;AC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

51988953

Gene	ABHD14A-ACY1, ACY1

is a	snp
is	mentioned by
dbSNP	rs387906579
dbSNP (classic)	rs387906579
ClinGen	rs387906579
ebi	rs387906579
HLI	rs387906579
Exac	rs387906579
Gnomad	rs387906579
Varsome	rs387906579
LitVar	rs387906579
Map	rs387906579
PheGenI	rs387906579
Biobank	rs387906579
1000 genomes	rs387906579
hgdp	rs387906579
ensembl	rs387906579
geneview	rs387906579
scholar	rs387906579
google	rs387906579
pharmgkb	rs387906579
gwascentral	rs387906579
openSNP	rs387906579
23andMe	rs387906579
SNPshot	rs387906579
SNPdbe	rs387906579
MSV3d	rs387906579
GWAS Ctlg	rs387906579

Max Magnitude

0

ClinVar
Risk	rs387906579(CA;CA)
Alt	rs387906579(CA;CA)
Reference	Rs387906579(-;-)
Significance	Pathogenic
Disease	Aminoacylase 1 deficiency
Variation	info
Gene	ACY1 ABHD14A-ACY1
CLNDBN	Aminoacylase 1 deficiency
Reversed	0
HGVS	NC_000003.11:g.52022968_52022969dupAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019737.28,