rs587779591

Orientation

plus

Stabilized

plus

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

Make rs587779591(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999349

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779591
dbSNP (classic)	rs587779591
ClinGen	rs587779591
ebi	rs587779591
HLI	rs587779591
Exac	rs587779591
Gnomad	rs587779591
Varsome	rs587779591
LitVar	rs587779591
Map	rs587779591
PheGenI	rs587779591
Biobank	rs587779591
1000 genomes	rs587779591
hgdp	rs587779591
ensembl	rs587779591
geneview	rs587779591
scholar	rs587779591
google	rs587779591
pharmgkb	rs587779591
gwascentral	rs587779591
openSNP	rs587779591
23andMe	rs587779591
SNPshot	rs587779591
SNPdbe	rs587779591
MSV3d	rs587779591
GWAS Ctlg	rs587779591

Max Magnitude

6.5

ClinVar
Risk	rs587779591(A;A)
Alt	rs587779591(A;A)
Reference	Rs587779591(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.189864075G>A
CLNSRC
CLNACC	RCV000087543.1,