rs587779508

Orientation

plus

Stabilized

plus

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

Make rs587779508(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188988135

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779508
dbSNP (classic)	rs587779508
ClinGen	rs587779508
ebi	rs587779508
HLI	rs587779508
Exac	rs587779508
Gnomad	rs587779508
Varsome	rs587779508
LitVar	rs587779508
Map	rs587779508
PheGenI	rs587779508
Biobank	rs587779508
1000 genomes	rs587779508
hgdp	rs587779508
ensembl	rs587779508
geneview	rs587779508
scholar	rs587779508
google	rs587779508
pharmgkb	rs587779508
gwascentral	rs587779508
openSNP	rs587779508
23andMe	rs587779508
SNPshot	rs587779508
SNPdbe	rs587779508
MSV3d	rs587779508
GWAS Ctlg	rs587779508

Max Magnitude

6.5

ClinVar
Risk	rs587779508(C;C)
Alt	rs587779508(C;C)
Reference	Rs587779508(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.189852861G>C
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087443.1,