rs120074141

Orientation

plus

Stabilized

plus

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

Make rs120074141(A;A)

Make rs120074141(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108139009

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs120074141
dbSNP (classic)	rs120074141
ClinGen	rs120074141
ebi	rs120074141
HLI	rs120074141
Exac	rs120074141
Gnomad	rs120074141
Varsome	rs120074141
LitVar	rs120074141
Map	rs120074141
PheGenI	rs120074141
Biobank	rs120074141
1000 genomes	rs120074141
hgdp	rs120074141
ensembl	rs120074141
geneview	rs120074141
scholar	rs120074141
google	rs120074141
pharmgkb	rs120074141
gwascentral	rs120074141
openSNP	rs120074141
23andMe	rs120074141
SNPshot	rs120074141
SNPdbe	rs120074141
MSV3d	rs120074141
GWAS Ctlg	rs120074141

Max Magnitude

0

OMIM	607809
Desc
Variant	0002
Related	also

ClinVar
Risk	rs120074141(A;A)
Alt	rs120074141(A;A)
Reference	Rs120074141(G;G)
Significance	Pathogenic
Disease	Deficiency of acetyl-CoA acetyltransferase
Variation	info
Gene	ACAT1
CLNDBN	Deficiency of acetyl-CoA acetyltransferase
Reversed	0
HGVS	NC_000011.9:g.108009736G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002967.2,