rs587779535

Orientation

plus

Stabilized

plus

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

Make rs587779535(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188996179

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs587779535
dbSNP (classic)	rs587779535
ClinGen	rs587779535
ebi	rs587779535
HLI	rs587779535
Exac	rs587779535
Gnomad	rs587779535
Varsome	rs587779535
LitVar	rs587779535
Map	rs587779535
PheGenI	rs587779535
Biobank	rs587779535
1000 genomes	rs587779535
hgdp	rs587779535
ensembl	rs587779535
geneview	rs587779535
scholar	rs587779535
google	rs587779535
pharmgkb	rs587779535
gwascentral	rs587779535
openSNP	rs587779535
23andMe	rs587779535
SNPshot	rs587779535
SNPdbe	rs587779535
MSV3d	rs587779535
GWAS Ctlg	rs587779535

Max Magnitude

6.5

ClinVar
Risk	rs587779535(A;A) rs587779535(C;C) rs587779535(T;T)
Alt	rs587779535(A;A) rs587779535(C;C) rs587779535(T;T)
Reference	Rs587779535(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	COL3A1 MIR3606
CLNDBN	Ehlers-Danlos syndrome, type 4 not provided Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000002.11:g.189860905G>A; NC_000002.11:g.189860905G>C; NC_000002.11:g.189860905G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087506.1, RCV000181086.1, RCV000254020.1, RCV000087559.1, RCV000087475.1,