rs120074146

Orientation

plus

Stabilized

plus

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

Make rs120074146(C;C)

Make rs120074146(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108142545

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs120074146
dbSNP (classic)	rs120074146
ClinGen	rs120074146
ebi	rs120074146
HLI	rs120074146
Exac	rs120074146
Gnomad	rs120074146
Varsome	rs120074146
LitVar	rs120074146
Map	rs120074146
PheGenI	rs120074146
Biobank	rs120074146
1000 genomes	rs120074146
hgdp	rs120074146
ensembl	rs120074146
geneview	rs120074146
scholar	rs120074146
google	rs120074146
pharmgkb	rs120074146
gwascentral	rs120074146
openSNP	rs120074146
23andMe	rs120074146
SNPshot	rs120074146
SNPdbe	rs120074146
MSV3d	rs120074146
GWAS Ctlg	rs120074146

Max Magnitude

0

OMIM	607809
Desc
Variant	0013
Related	also

ClinVar
Risk	rs120074146(C;C)
Alt	rs120074146(C;C)
Reference	Rs120074146(T;T)
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.108013272T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002978.3,