rs587779482

Orientation

plus

Stabilized

plus

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

Make rs587779482(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189008125

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779482
dbSNP (classic)	rs587779482
ClinGen	rs587779482
ebi	rs587779482
HLI	rs587779482
Exac	rs587779482
Gnomad	rs587779482
Varsome	rs587779482
LitVar	rs587779482
Map	rs587779482
PheGenI	rs587779482
Biobank	rs587779482
1000 genomes	rs587779482
hgdp	rs587779482
ensembl	rs587779482
geneview	rs587779482
scholar	rs587779482
google	rs587779482
pharmgkb	rs587779482
gwascentral	rs587779482
openSNP	rs587779482
23andMe	rs587779482
SNPshot	rs587779482
SNPdbe	rs587779482
MSV3d	rs587779482
GWAS Ctlg	rs587779482

Max Magnitude

6.5

ClinVar
Risk	rs587779482(A;A)
Alt	rs587779482(A;A)
Reference	Rs587779482(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.189872851G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087414.1,