rs587779707

Orientation

plus

Stabilized

plus

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

Make rs587779707(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188985744

Gene	COL3A1, LOC105373791

is a	snp
is	mentioned by
dbSNP	rs587779707
dbSNP (classic)	rs587779707
ClinGen	rs587779707
ebi	rs587779707
HLI	rs587779707
Exac	rs587779707
Gnomad	rs587779707
Varsome	rs587779707
LitVar	rs587779707
Map	rs587779707
PheGenI	rs587779707
Biobank	rs587779707
1000 genomes	rs587779707
hgdp	rs587779707
ensembl	rs587779707
geneview	rs587779707
scholar	rs587779707
google	rs587779707
pharmgkb	rs587779707
gwascentral	rs587779707
openSNP	rs587779707
23andMe	rs587779707
SNPshot	rs587779707
SNPdbe	rs587779707
MSV3d	rs587779707
GWAS Ctlg	rs587779707

Max Magnitude

6.5

ClinVar
Risk	rs587779707(-;-)
Alt	rs587779707(-;-)
Reference	Rs587779707(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189850470delC
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087713.1,