rs120074148

Orientation

plus

Stabilized

plus

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

Make rs120074148(C;G)

Make rs120074148(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108135240

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs120074148
dbSNP (classic)	rs120074148
ClinGen	rs120074148
ebi	rs120074148
HLI	rs120074148
Exac	rs120074148
Gnomad	rs120074148
Varsome	rs120074148
LitVar	rs120074148
Map	rs120074148
PheGenI	rs120074148
Biobank	rs120074148
1000 genomes	rs120074148
hgdp	rs120074148
ensembl	rs120074148
geneview	rs120074148
scholar	rs120074148
google	rs120074148
pharmgkb	rs120074148
gwascentral	rs120074148
openSNP	rs120074148
23andMe	rs120074148
SNPshot	rs120074148
SNPdbe	rs120074148
MSV3d	rs120074148
GWAS Ctlg	rs120074148

GMAF

0.0004591

Max Magnitude

0

OMIM	607809
Desc
Variant	0015
Related	also

ClinVar
Risk	rs120074148(G;G)
Alt	rs120074148(G;G)
Reference	Rs120074148(C;C)
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.108005967C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002980.5,