rs587779604

Orientation

plus

Stabilized

plus

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

Make rs587779604(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188990353

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779604
dbSNP (classic)	rs587779604
ClinGen	rs587779604
ebi	rs587779604
HLI	rs587779604
Exac	rs587779604
Gnomad	rs587779604
Varsome	rs587779604
LitVar	rs587779604
Map	rs587779604
PheGenI	rs587779604
Biobank	rs587779604
1000 genomes	rs587779604
hgdp	rs587779604
ensembl	rs587779604
geneview	rs587779604
scholar	rs587779604
google	rs587779604
pharmgkb	rs587779604
gwascentral	rs587779604
openSNP	rs587779604
23andMe	rs587779604
SNPshot	rs587779604
SNPdbe	rs587779604
MSV3d	rs587779604
GWAS Ctlg	rs587779604

Max Magnitude

6.5

ClinVar
Risk	rs587779604(A;A)
Alt	rs587779604(A;A)
Reference	Rs587779604(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.189855079G>A
CLNSRC
CLNACC	RCV000087558.1,