rs587779514

Orientation

plus

Stabilized

plus

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

Make rs587779514(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189003063

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779514
dbSNP (classic)	rs587779514
ClinGen	rs587779514
ebi	rs587779514
HLI	rs587779514
Exac	rs587779514
Gnomad	rs587779514
Varsome	rs587779514
LitVar	rs587779514
Map	rs587779514
PheGenI	rs587779514
Biobank	rs587779514
1000 genomes	rs587779514
hgdp	rs587779514
ensembl	rs587779514
geneview	rs587779514
scholar	rs587779514
google	rs587779514
pharmgkb	rs587779514
gwascentral	rs587779514
openSNP	rs587779514
23andMe	rs587779514
SNPshot	rs587779514
SNPdbe	rs587779514
MSV3d	rs587779514
GWAS Ctlg	rs587779514

Max Magnitude

6.5

ClinVar
Risk	rs587779514(-;-)
Alt	rs587779514(-;-)
Reference	Rs587779514(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.189867789delG
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087451.1,