rs587779720

Orientation

plus

Stabilized

plus

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

Make rs587779720(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189007931

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779720
dbSNP (classic)	rs587779720
ClinGen	rs587779720
ebi	rs587779720
HLI	rs587779720
Exac	rs587779720
Gnomad	rs587779720
Varsome	rs587779720
LitVar	rs587779720
Map	rs587779720
PheGenI	rs587779720
Biobank	rs587779720
1000 genomes	rs587779720
hgdp	rs587779720
ensembl	rs587779720
geneview	rs587779720
scholar	rs587779720
google	rs587779720
pharmgkb	rs587779720
gwascentral	rs587779720
openSNP	rs587779720
23andMe	rs587779720
SNPshot	rs587779720
SNPdbe	rs587779720
MSV3d	rs587779720
GWAS Ctlg	rs587779720

Max Magnitude

6.5

ClinVar
Risk	rs587779720(A;A)
Alt	rs587779720(A;A)
Reference	Rs587779720(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.189872657G>A
CLNSRC
CLNACC	RCV000087732.1,