rs398122988

Orientation

plus

Stabilized

plus

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

Make rs398122988(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

62597929

Gene	ANGPTL3, DOCK7

is a	snp
is	mentioned by
dbSNP	rs398122988
dbSNP (classic)	rs398122988
ClinGen	rs398122988
ebi	rs398122988
HLI	rs398122988
Exac	rs398122988
Gnomad	rs398122988
Varsome	rs398122988
LitVar	rs398122988
Map	rs398122988
PheGenI	rs398122988
Biobank	rs398122988
1000 genomes	rs398122988
hgdp	rs398122988
ensembl	rs398122988
geneview	rs398122988
scholar	rs398122988
google	rs398122988
pharmgkb	rs398122988
gwascentral	rs398122988
openSNP	rs398122988
23andMe	rs398122988
SNPshot	rs398122988
SNPdbe	rs398122988
MSV3d	rs398122988
GWAS Ctlg	rs398122988

Merged from

Rs569107562

Max Magnitude

5

ANGPTL3, c.363_367delCTCAA (p.Asn121Lysfs)

ClinVar
Risk	rs398122988(-;-) Rs398122988(AACTC;AACTC)
Alt	rs398122988(-;-) Rs398122988(AACTC;AACTC)
Reference	Rs398122988(CTCAA;CTCAA)
Significance	Pathogenic
Disease	Hypobetalipoproteinemia
Variation	info
Gene	DOCK7 ANGPTL3
CLNDBN	Hypobetalipoproteinemia, familial, 2
Reversed	0
HGVS	NC_000001.10:g.63063600_63063604delCTCAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000077769.2,