rs587779708

Orientation

plus

Stabilized

plus

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

Make rs587779708(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999284

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779708
dbSNP (classic)	rs587779708
ClinGen	rs587779708
ebi	rs587779708
HLI	rs587779708
Exac	rs587779708
Gnomad	rs587779708
Varsome	rs587779708
LitVar	rs587779708
Map	rs587779708
PheGenI	rs587779708
Biobank	rs587779708
1000 genomes	rs587779708
hgdp	rs587779708
ensembl	rs587779708
geneview	rs587779708
scholar	rs587779708
google	rs587779708
pharmgkb	rs587779708
gwascentral	rs587779708
openSNP	rs587779708
23andMe	rs587779708
SNPshot	rs587779708
SNPdbe	rs587779708
MSV3d	rs587779708
GWAS Ctlg	rs587779708

Max Magnitude

6.5

ClinVar
Risk	rs587779708(A;A)
Alt	rs587779708(A;A)
Reference	Rs587779708(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.189864010G>A
CLNSRC
CLNACC	RCV000087714.1,