rs387906282

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAG;AAG)	0	common in clinvar
(GAA;GAA)	0	common in clinvar
(I;I)	0	common genotype

Make rs387906282(-;-)

Make rs387906282(-;GAA)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108146229

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs387906282
dbSNP (classic)	rs387906282
ClinGen	rs387906282
ebi	rs387906282
HLI	rs387906282
Exac	rs387906282
Gnomad	rs387906282
Varsome	rs387906282
LitVar	rs387906282
Map	rs387906282
PheGenI	rs387906282
Biobank	rs387906282
1000 genomes	rs387906282
hgdp	rs387906282
ensembl	rs387906282
geneview	rs387906282
scholar	rs387906282
google	rs387906282
pharmgkb	rs387906282
gwascentral	rs387906282
openSNP	rs387906282
23andMe	rs387906282
SNPshot	rs387906282
SNPdbe	rs387906282
MSV3d	rs387906282
GWAS Ctlg	rs387906282

Max Magnitude

0

ClinVar
Risk	rs387906282(-;-)
Alt	rs387906282(-;-)
Reference	Rs387906282(AAG;AAG)
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.108016956_108016958delGAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002975.2,