rs587779623

Orientation

plus

Stabilized

plus

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

Make rs587779623(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999375

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779623
dbSNP (classic)	rs587779623
ClinGen	rs587779623
ebi	rs587779623
HLI	rs587779623
Exac	rs587779623
Gnomad	rs587779623
Varsome	rs587779623
LitVar	rs587779623
Map	rs587779623
PheGenI	rs587779623
Biobank	rs587779623
1000 genomes	rs587779623
hgdp	rs587779623
ensembl	rs587779623
geneview	rs587779623
scholar	rs587779623
google	rs587779623
pharmgkb	rs587779623
gwascentral	rs587779623
openSNP	rs587779623
23andMe	rs587779623
SNPshot	rs587779623
SNPdbe	rs587779623
MSV3d	rs587779623
GWAS Ctlg	rs587779623

Max Magnitude

6.5

ClinVar
Risk	rs587779623(A;A)
Alt	rs587779623(A;A)
Reference	Rs587779623(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.189864101G>A
CLNSRC
CLNACC	RCV000087584.1,