rs120074147

Orientation

plus

Stabilized

plus

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

Make rs120074147(C;C)

Make rs120074147(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108144039

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs120074147
dbSNP (classic)	rs120074147
ClinGen	rs120074147
ebi	rs120074147
HLI	rs120074147
Exac	rs120074147
Gnomad	rs120074147
Varsome	rs120074147
LitVar	rs120074147
Map	rs120074147
PheGenI	rs120074147
Biobank	rs120074147
1000 genomes	rs120074147
hgdp	rs120074147
ensembl	rs120074147
geneview	rs120074147
scholar	rs120074147
google	rs120074147
pharmgkb	rs120074147
gwascentral	rs120074147
openSNP	rs120074147
23andMe	rs120074147
SNPshot	rs120074147
SNPdbe	rs120074147
MSV3d	rs120074147
GWAS Ctlg	rs120074147

Max Magnitude

0

OMIM	607809
Desc
Variant	0014
Related	also

ClinVar
Risk	rs120074147(C;C)
Alt	rs120074147(C;C)
Reference	Rs120074147(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.108014766G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002979.4,