rs587779490

Orientation

plus

Stabilized

plus

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

Make rs587779490(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189010320

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779490
dbSNP (classic)	rs587779490
ClinGen	rs587779490
ebi	rs587779490
HLI	rs587779490
Exac	rs587779490
Gnomad	rs587779490
Varsome	rs587779490
LitVar	rs587779490
Map	rs587779490
PheGenI	rs587779490
Biobank	rs587779490
1000 genomes	rs587779490
hgdp	rs587779490
ensembl	rs587779490
geneview	rs587779490
scholar	rs587779490
google	rs587779490
pharmgkb	rs587779490
gwascentral	rs587779490
openSNP	rs587779490
23andMe	rs587779490
SNPshot	rs587779490
SNPdbe	rs587779490
MSV3d	rs587779490
GWAS Ctlg	rs587779490

Max Magnitude

6.5

ClinVar
Risk	rs587779490(-;-)
Alt	rs587779490(-;-)
Reference	Rs587779490(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189875046delG
CLNSRC
CLNACC	RCV000087423.1,