rs120074145

Orientation

plus

Stabilized

plus

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

Make rs120074145(A;G)

Make rs120074145(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108134260

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs120074145
dbSNP (classic)	rs120074145
ClinGen	rs120074145
ebi	rs120074145
HLI	rs120074145
Exac	rs120074145
Gnomad	rs120074145
Varsome	rs120074145
LitVar	rs120074145
Map	rs120074145
PheGenI	rs120074145
Biobank	rs120074145
1000 genomes	rs120074145
hgdp	rs120074145
ensembl	rs120074145
geneview	rs120074145
scholar	rs120074145
google	rs120074145
pharmgkb	rs120074145
gwascentral	rs120074145
openSNP	rs120074145
23andMe	rs120074145
SNPshot	rs120074145
SNPdbe	rs120074145
MSV3d	rs120074145
GWAS Ctlg	rs120074145

Max Magnitude

0

OMIM	607809
Desc
Variant	0012
Related	also

ClinVar
Risk	rs120074145(G;G)
Alt	rs120074145(G;G)
Reference	Rs120074145(A;A)
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.108004987A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002977.3,