rs587779545

Orientation

plus

Stabilized

plus

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

Make rs587779545(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006391

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779545
dbSNP (classic)	rs587779545
ClinGen	rs587779545
ebi	rs587779545
HLI	rs587779545
Exac	rs587779545
Gnomad	rs587779545
Varsome	rs587779545
LitVar	rs587779545
Map	rs587779545
PheGenI	rs587779545
Biobank	rs587779545
1000 genomes	rs587779545
hgdp	rs587779545
ensembl	rs587779545
geneview	rs587779545
scholar	rs587779545
google	rs587779545
pharmgkb	rs587779545
gwascentral	rs587779545
openSNP	rs587779545
23andMe	rs587779545
SNPshot	rs587779545
SNPdbe	rs587779545
MSV3d	rs587779545
GWAS Ctlg	rs587779545

Max Magnitude

6.5

ClinVar
Risk	rs587779545(A;A)
Alt	rs587779545(A;A)
Reference	Rs587779545(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.189871117G>A
CLNSRC
CLNACC	RCV000087486.1,