rs121912698

Orientation

plus

Stabilized

plus

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

Make rs121912698(C;T)

Make rs121912698(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

51988821

Gene	ABHD14A-ACY1, ACY1

is a	snp
is	mentioned by
dbSNP	rs121912698
dbSNP (classic)	rs121912698
ClinGen	rs121912698
ebi	rs121912698
HLI	rs121912698
Exac	rs121912698
Gnomad	rs121912698
Varsome	rs121912698
LitVar	rs121912698
Map	rs121912698
PheGenI	rs121912698
Biobank	rs121912698
1000 genomes	rs121912698
hgdp	rs121912698
ensembl	rs121912698
geneview	rs121912698
scholar	rs121912698
google	rs121912698
pharmgkb	rs121912698
gwascentral	rs121912698
openSNP	rs121912698
23andMe	rs121912698
SNPshot	rs121912698
SNPdbe	rs121912698
MSV3d	rs121912698
GWAS Ctlg	rs121912698

GMAF

0.0004591

Max Magnitude

0

OMIM	104620
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912698(T;T)
Alt	rs121912698(T;T)
Reference	Rs121912698(C;C)
Significance	Pathogenic
Disease	Aminoacylase 1 deficiency not specified
Variation	info
Gene	ACY1 ABHD14A-ACY1
CLNDBN	Aminoacylase 1 deficiency not specified
Reversed	0
HGVS	NC_000003.11:g.52022837C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019738.28, RCV000355955.1,