rs120074140

Orientation

plus

Stabilized

plus

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

Make rs120074140(A;A)

Make rs120074140(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108146334

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs120074140
dbSNP (classic)	rs120074140
ClinGen	rs120074140
ebi	rs120074140
HLI	rs120074140
Exac	rs120074140
Gnomad	rs120074140
Varsome	rs120074140
LitVar	rs120074140
Map	rs120074140
PheGenI	rs120074140
Biobank	rs120074140
1000 genomes	rs120074140
hgdp	rs120074140
ensembl	rs120074140
geneview	rs120074140
scholar	rs120074140
google	rs120074140
pharmgkb	rs120074140
gwascentral	rs120074140
openSNP	rs120074140
23andMe	rs120074140
SNPshot	rs120074140
SNPdbe	rs120074140
MSV3d	rs120074140
GWAS Ctlg	rs120074140

Max Magnitude

0

OMIM	607809
Desc
Variant	0001
Related	also

ClinVar
Risk	rs120074140(A;A)
Alt	rs120074140(A;A)
Reference	Rs120074140(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.108017061G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002966.2,