rs387906283

Orientation

plus

Stabilized

plus

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

Make rs387906283(-;A)

Make rs387906283(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108146279

Gene

ACAT1

is a	snp
is	mentioned by
dbSNP	rs387906283
dbSNP (classic)	rs387906283
ClinGen	rs387906283
ebi	rs387906283
HLI	rs387906283
Exac	rs387906283
Gnomad	rs387906283
Varsome	rs387906283
LitVar	rs387906283
Map	rs387906283
PheGenI	rs387906283
Biobank	rs387906283
1000 genomes	rs387906283
hgdp	rs387906283
ensembl	rs387906283
geneview	rs387906283
scholar	rs387906283
google	rs387906283
pharmgkb	rs387906283
gwascentral	rs387906283
openSNP	rs387906283
23andMe	rs387906283
SNPshot	rs387906283
SNPdbe	rs387906283
MSV3d	rs387906283
GWAS Ctlg	rs387906283

Max Magnitude

0

ClinVar
Risk	rs387906283(A;A)
Alt	rs387906283(A;A)
Reference	Rs387906283(-;-)
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.108017006dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002976.4,