rs587779600

Orientation

plus

Stabilized

plus

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

Make rs587779600(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188997390

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779600
dbSNP (classic)	rs587779600
ClinGen	rs587779600
ebi	rs587779600
HLI	rs587779600
Exac	rs587779600
Gnomad	rs587779600
Varsome	rs587779600
LitVar	rs587779600
Map	rs587779600
PheGenI	rs587779600
Biobank	rs587779600
1000 genomes	rs587779600
hgdp	rs587779600
ensembl	rs587779600
geneview	rs587779600
scholar	rs587779600
google	rs587779600
pharmgkb	rs587779600
gwascentral	rs587779600
openSNP	rs587779600
23andMe	rs587779600
SNPshot	rs587779600
SNPdbe	rs587779600
MSV3d	rs587779600
GWAS Ctlg	rs587779600

Max Magnitude

6.5

ClinVar
Risk	rs587779600(C;C)
Alt	rs587779600(C;C)
Reference	Rs587779600(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.189862116G>C
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087552.1,