rs120074144

Orientation

plus

Stabilized

plus

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

Make rs120074144(C;T)

Make rs120074144(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108141688

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs120074144
dbSNP (classic)	rs120074144
ClinGen	rs120074144
ebi	rs120074144
HLI	rs120074144
Exac	rs120074144
Gnomad	rs120074144
Varsome	rs120074144
LitVar	rs120074144
Map	rs120074144
PheGenI	rs120074144
Biobank	rs120074144
1000 genomes	rs120074144
hgdp	rs120074144
ensembl	rs120074144
geneview	rs120074144
scholar	rs120074144
google	rs120074144
pharmgkb	rs120074144
gwascentral	rs120074144
openSNP	rs120074144
23andMe	rs120074144
SNPshot	rs120074144
SNPdbe	rs120074144
MSV3d	rs120074144
GWAS Ctlg	rs120074144

Max Magnitude

0

OMIM	607809
Desc
Variant	0009
Related	also

ClinVar
Risk	rs120074144(T;T)
Alt	rs120074144(T;T)
Reference	Rs120074144(C;C)
Significance	Pathogenic
Disease	Deficiency of acetyl-CoA acetyltransferase not provided
Variation	info
Gene	ACAT1
CLNDBN	Deficiency of acetyl-CoA acetyltransferase not provided
Reversed	0
HGVS	NC_000011.9:g.108012415C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000002974.4, RCV000077933.3,