rs672601330

Orientation

plus

Stabilized

plus

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

Make rs672601330(A;A)

Make rs672601330(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

51986254

Gene	ABHD14A-ACY1, ACY1

is a	snp
is	mentioned by
dbSNP	rs672601330
dbSNP (classic)	rs672601330
ClinGen	rs672601330
ebi	rs672601330
HLI	rs672601330
Exac	rs672601330
Gnomad	rs672601330
Varsome	rs672601330
LitVar	rs672601330
Map	rs672601330
PheGenI	rs672601330
Biobank	rs672601330
1000 genomes	rs672601330
hgdp	rs672601330
ensembl	rs672601330
geneview	rs672601330
scholar	rs672601330
google	rs672601330
pharmgkb	rs672601330
gwascentral	rs672601330
openSNP	rs672601330
23andMe	rs672601330
SNPshot	rs672601330
SNPdbe	rs672601330
MSV3d	rs672601330
GWAS Ctlg	rs672601330

Max Magnitude

0

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,