rs587779610

Orientation

plus

Stabilized

plus

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

Make rs587779610(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189007528

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779610
dbSNP (classic)	rs587779610
ClinGen	rs587779610
ebi	rs587779610
HLI	rs587779610
Exac	rs587779610
Gnomad	rs587779610
Varsome	rs587779610
LitVar	rs587779610
Map	rs587779610
PheGenI	rs587779610
Biobank	rs587779610
1000 genomes	rs587779610
hgdp	rs587779610
ensembl	rs587779610
geneview	rs587779610
scholar	rs587779610
google	rs587779610
pharmgkb	rs587779610
gwascentral	rs587779610
openSNP	rs587779610
23andMe	rs587779610
SNPshot	rs587779610
SNPdbe	rs587779610
MSV3d	rs587779610
GWAS Ctlg	rs587779610

Max Magnitude

6.5

ClinVar
Risk	rs587779610(A;A)
Alt	rs587779610(A;A)
Reference	Rs587779610(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.189872254G>A
CLNSRC
CLNACC	RCV000087566.1,