rs587779651

Orientation

plus

Stabilized

plus

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

Make rs587779651(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006408

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779651
dbSNP (classic)	rs587779651
ClinGen	rs587779651
ebi	rs587779651
HLI	rs587779651
Exac	rs587779651
Gnomad	rs587779651
Varsome	rs587779651
LitVar	rs587779651
Map	rs587779651
PheGenI	rs587779651
Biobank	rs587779651
1000 genomes	rs587779651
hgdp	rs587779651
ensembl	rs587779651
geneview	rs587779651
scholar	rs587779651
google	rs587779651
pharmgkb	rs587779651
gwascentral	rs587779651
openSNP	rs587779651
23andMe	rs587779651
SNPshot	rs587779651
SNPdbe	rs587779651
MSV3d	rs587779651
GWAS Ctlg	rs587779651

Max Magnitude

6.5

ClinVar
Risk	rs587779651(C;C)
Alt	rs587779651(C;C)
Reference	Rs587779651(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.189871134G>C
CLNSRC
CLNACC	RCV000087627.1,