rs587779583

Orientation

plus

Stabilized

plus

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

Make rs587779583(A;A)

Make rs587779583(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189005377

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779583
dbSNP (classic)	rs587779583
ClinGen	rs587779583
ebi	rs587779583
HLI	rs587779583
Exac	rs587779583
Gnomad	rs587779583
Varsome	rs587779583
LitVar	rs587779583
Map	rs587779583
PheGenI	rs587779583
Biobank	rs587779583
1000 genomes	rs587779583
hgdp	rs587779583
ensembl	rs587779583
geneview	rs587779583
scholar	rs587779583
google	rs587779583
pharmgkb	rs587779583
gwascentral	rs587779583
openSNP	rs587779583
23andMe	rs587779583
SNPshot	rs587779583
SNPdbe	rs587779583
MSV3d	rs587779583
GWAS Ctlg	rs587779583

Max Magnitude

0

ClinVar
Risk	rs587779583(A;A)
Alt	rs587779583(A;A)
Reference	Rs587779583(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4 Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000002.11:g.189870103G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087534.1, RCV000243223.1,