rs587782990

Orientation

minus

Stabilized

minus

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

Make rs587782990(G;G)

Make rs587782990(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

103026402

Gene

COL11A1

is a	snp
is	mentioned by
dbSNP	rs587782990
dbSNP (classic)	rs587782990
ClinGen	rs587782990
ebi	rs587782990
HLI	rs587782990
Exac	rs587782990
Gnomad	rs587782990
Varsome	rs587782990
LitVar	rs587782990
Map	rs587782990
PheGenI	rs587782990
Biobank	rs587782990
1000 genomes	rs587782990
hgdp	rs587782990
ensembl	rs587782990
geneview	rs587782990
scholar	rs587782990
google	rs587782990
pharmgkb	rs587782990
gwascentral	rs587782990
openSNP	rs587782990
23andMe	rs587782990
SNPshot	rs587782990
SNPdbe	rs587782990
MSV3d	rs587782990
GWAS Ctlg	rs587782990

Max Magnitude

0

Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

ClinVar
Risk	rs587782990(G;G)
Alt	rs587782990(G;G)
Reference	Rs587782990(T;T)
Significance	Pathogenic
Disease	sporadic abdominal aortic aneurysm
Variation	info
Gene	COL11A1
CLNDBN	sporadic abdominal aortic aneurysm
Reversed	1
HGVS	NC_000001.10:g.103491958A>C
CLNSRC
CLNACC	RCV000144033.2,