rs587779577

Orientation

plus

Stabilized

plus

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

Make rs587779577(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999321

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779577
dbSNP (classic)	rs587779577
ClinGen	rs587779577
ebi	rs587779577
HLI	rs587779577
Exac	rs587779577
Gnomad	rs587779577
Varsome	rs587779577
LitVar	rs587779577
Map	rs587779577
PheGenI	rs587779577
Biobank	rs587779577
1000 genomes	rs587779577
hgdp	rs587779577
ensembl	rs587779577
geneview	rs587779577
scholar	rs587779577
google	rs587779577
pharmgkb	rs587779577
gwascentral	rs587779577
openSNP	rs587779577
23andMe	rs587779577
SNPshot	rs587779577
SNPdbe	rs587779577
MSV3d	rs587779577
GWAS Ctlg	rs587779577

Max Magnitude

6.5

ClinVar
Risk	rs587779577(C;C)
Alt	rs587779577(C;C)
Reference	Rs587779577(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.189864047G>C
CLNSRC
CLNACC	RCV000087526.1,