rs587779511

Orientation

plus

Stabilized

plus

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

Make rs587779511(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004321

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779511
dbSNP (classic)	rs587779511
ClinGen	rs587779511
ebi	rs587779511
HLI	rs587779511
Exac	rs587779511
Gnomad	rs587779511
Varsome	rs587779511
LitVar	rs587779511
Map	rs587779511
PheGenI	rs587779511
Biobank	rs587779511
1000 genomes	rs587779511
hgdp	rs587779511
ensembl	rs587779511
geneview	rs587779511
scholar	rs587779511
google	rs587779511
pharmgkb	rs587779511
gwascentral	rs587779511
openSNP	rs587779511
23andMe	rs587779511
SNPshot	rs587779511
SNPdbe	rs587779511
MSV3d	rs587779511
GWAS Ctlg	rs587779511

Max Magnitude

0

ClinVar
Risk	rs587779511(A;A)
Alt	rs587779511(A;A)
Reference	Rs587779511(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.189869047G>A
CLNSRC
CLNACC	RCV000087447.1,