rs587779573

Orientation

plus

Stabilized

plus

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

Make rs587779573(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188997754

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779573
dbSNP (classic)	rs587779573
ClinGen	rs587779573
ebi	rs587779573
HLI	rs587779573
Exac	rs587779573
Gnomad	rs587779573
Varsome	rs587779573
LitVar	rs587779573
Map	rs587779573
PheGenI	rs587779573
Biobank	rs587779573
1000 genomes	rs587779573
hgdp	rs587779573
ensembl	rs587779573
geneview	rs587779573
scholar	rs587779573
google	rs587779573
pharmgkb	rs587779573
gwascentral	rs587779573
openSNP	rs587779573
23andMe	rs587779573
SNPshot	rs587779573
SNPdbe	rs587779573
MSV3d	rs587779573
GWAS Ctlg	rs587779573

Max Magnitude

6.5

ClinVar
Risk	rs587779573(A;A) rs587779573(C;C)
Alt	rs587779573(A;A) rs587779573(C;C)
Reference	Rs587779573(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.189862480G>A; NC_000002.11:g.189862480G>C
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087522.1, RCV000087699.1,