rs780788248

Orientation

plus

Stabilized

plus

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

Make rs780788248(A;A)

Make rs780788248(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006352

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs780788248
dbSNP (classic)	rs780788248
ClinGen	rs780788248
ebi	rs780788248
HLI	rs780788248
Exac	rs780788248
Gnomad	rs780788248
Varsome	rs780788248
LitVar	rs780788248
Map	rs780788248
PheGenI	rs780788248
Biobank	rs780788248
1000 genomes	rs780788248
hgdp	rs780788248
ensembl	rs780788248
geneview	rs780788248
scholar	rs780788248
google	rs780788248
pharmgkb	rs780788248
gwascentral	rs780788248
openSNP	rs780788248
23andMe	rs780788248
SNPshot	rs780788248
SNPdbe	rs780788248
MSV3d	rs780788248
GWAS Ctlg	rs780788248

Max Magnitude

0

ClinVar
Risk	rs780788248(A;A)
Alt	rs780788248(A;A)
Reference	Rs780788248(G;G)
Significance	Probable-Pathogenic
Disease	Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	COL3A1
CLNDBN	Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000002.11:g.189871078G>A
CLNSRC
CLNACC	RCV000181105.1,