rs398122987

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AACT)	5	Lowered risk (0.6x) of coronary artery disease
(AACT;AACT)	0	common in clinvar

Make rs398122987(-;-)

Reference

GRCh38 38.1/141

Chromosome

1

Position

62598005

Gene	ANGPTL3, DOCK7

is a	snp
is	mentioned by
dbSNP	rs398122987
dbSNP (classic)	rs398122987
ClinGen	rs398122987
ebi	rs398122987
HLI	rs398122987
Exac	rs398122987
Gnomad	rs398122987
Varsome	rs398122987
LitVar	rs398122987
Map	rs398122987
PheGenI	rs398122987
Biobank	rs398122987
1000 genomes	rs398122987
hgdp	rs398122987
ensembl	rs398122987
geneview	rs398122987
scholar	rs398122987
google	rs398122987
pharmgkb	rs398122987
gwascentral	rs398122987
openSNP	rs398122987
23andMe	rs398122987
SNPshot	rs398122987
SNPdbe	rs398122987
MSV3d	rs398122987
GWAS Ctlg	rs398122987

Max Magnitude

5

ANGPTL3, c.439_442delAACT (p.Asn147Terfs)

ClinVar
Risk	rs398122987(-;-)
Alt	rs398122987(-;-)
Reference	Rs398122987(AACT;AACT)
Significance	Pathogenic
Disease	Hypobetalipoproteinemia
Variation	info
Gene	DOCK7 ANGPTL3
CLNDBN	Hypobetalipoproteinemia, familial, 2
Reversed	0
HGVS	NC_000001.10:g.63063676_63063679delAACT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000077768.5,