rs587779619

Orientation

plus

Stabilized

plus

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

Make rs587779619(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006427

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779619
dbSNP (classic)	rs587779619
ClinGen	rs587779619
ebi	rs587779619
HLI	rs587779619
Exac	rs587779619
Gnomad	rs587779619
Varsome	rs587779619
LitVar	rs587779619
Map	rs587779619
PheGenI	rs587779619
Biobank	rs587779619
1000 genomes	rs587779619
hgdp	rs587779619
ensembl	rs587779619
geneview	rs587779619
scholar	rs587779619
google	rs587779619
pharmgkb	rs587779619
gwascentral	rs587779619
openSNP	rs587779619
23andMe	rs587779619
SNPshot	rs587779619
SNPdbe	rs587779619
MSV3d	rs587779619
GWAS Ctlg	rs587779619

Max Magnitude

6.5

ClinVar
Risk	rs587779619(T;T)
Alt	rs587779619(T;T)
Reference	Rs587779619(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.189871153G>T
CLNSRC
CLNACC	RCV000087579.1,