rs794728044

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	6.5	Ehlers-Danlos Syndrome (EDS) type 4

Make rs794728044(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

188994280

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs794728044
dbSNP (classic)	rs794728044
ClinGen	rs794728044
ebi	rs794728044
HLI	rs794728044
Exac	rs794728044
Gnomad	rs794728044
Varsome	rs794728044
LitVar	rs794728044
Map	rs794728044
PheGenI	rs794728044
Biobank	rs794728044
1000 genomes	rs794728044
hgdp	rs794728044
ensembl	rs794728044
geneview	rs794728044
scholar	rs794728044
google	rs794728044
pharmgkb	rs794728044
gwascentral	rs794728044
openSNP	rs794728044
23andMe	rs794728044
SNPshot	rs794728044
SNPdbe	rs794728044
MSV3d	rs794728044
GWAS Ctlg	rs794728044

Max Magnitude

6.5

ClinVar
Risk	rs794728044(A;A) rs794728044(T;T)
Alt	rs794728044(A;A) rs794728044(T;T)
Reference	Rs794728044(G;G)
Significance	Pathogenic
Disease	Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	COL3A1 MIR3606
CLNDBN	Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000002.11:g.189859006G>A
CLNSRC
CLNACC	RCV000252353.1,