rs762991875

Orientation

plus

Stabilized

plus

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

Make rs762991875(C;C)

Make rs762991875(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

108138917

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs762991875
dbSNP (classic)	rs762991875
ClinGen	rs762991875
ebi	rs762991875
HLI	rs762991875
Exac	rs762991875
Gnomad	rs762991875
Varsome	rs762991875
LitVar	rs762991875
Map	rs762991875
PheGenI	rs762991875
Biobank	rs762991875
1000 genomes	rs762991875
hgdp	rs762991875
ensembl	rs762991875
geneview	rs762991875
scholar	rs762991875
google	rs762991875
pharmgkb	rs762991875
gwascentral	rs762991875
openSNP	rs762991875
23andMe	rs762991875
SNPshot	rs762991875
SNPdbe	rs762991875
MSV3d	rs762991875
GWAS Ctlg	rs762991875

Max Magnitude

0

ClinVar
Risk	rs762991875(C;C)
Alt	rs762991875(C;C)
Reference	Rs762991875(G;G)
Significance	Probable-Pathogenic
Disease	Deficiency of acetyl-CoA acetyltransferase
Variation	info
Gene	ACAT1
CLNDBN	Deficiency of acetyl-CoA acetyltransferase
Reversed	0
HGVS	NC_000011.9:g.108009644G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000179236.1,