rs587779521

Orientation

plus

Stabilized

plus

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

Make rs587779521(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189008134

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779521
dbSNP (classic)	rs587779521
ClinGen	rs587779521
ebi	rs587779521
HLI	rs587779521
Exac	rs587779521
Gnomad	rs587779521
Varsome	rs587779521
LitVar	rs587779521
Map	rs587779521
PheGenI	rs587779521
Biobank	rs587779521
1000 genomes	rs587779521
hgdp	rs587779521
ensembl	rs587779521
geneview	rs587779521
scholar	rs587779521
google	rs587779521
pharmgkb	rs587779521
gwascentral	rs587779521
openSNP	rs587779521
23andMe	rs587779521
SNPshot	rs587779521
SNPdbe	rs587779521
MSV3d	rs587779521
GWAS Ctlg	rs587779521

Max Magnitude

6.5

ClinVar
Risk	rs587779521(A;A)
Alt	rs587779521(A;A)
Reference	Rs587779521(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.189872860G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087458.1,