rs587779705

Orientation

plus

Stabilized

plus

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

Make rs587779705(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188990316

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779705
dbSNP (classic)	rs587779705
ClinGen	rs587779705
ebi	rs587779705
HLI	rs587779705
Exac	rs587779705
Gnomad	rs587779705
Varsome	rs587779705
LitVar	rs587779705
Map	rs587779705
PheGenI	rs587779705
Biobank	rs587779705
1000 genomes	rs587779705
hgdp	rs587779705
ensembl	rs587779705
geneview	rs587779705
scholar	rs587779705
google	rs587779705
pharmgkb	rs587779705
gwascentral	rs587779705
openSNP	rs587779705
23andMe	rs587779705
SNPshot	rs587779705
SNPdbe	rs587779705
MSV3d	rs587779705
GWAS Ctlg	rs587779705

Max Magnitude

6.5

ClinVar
Risk	rs587779705(C;C) rs587779705(T;T)
Alt	rs587779705(C;C) rs587779705(T;T)
Reference	Rs587779705(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4 Ehlers-Danlos syndrome
Reversed	0
HGVS	NC_000002.11:g.189855042G>C; NC_000002.11:g.189855042G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087709.1, RCV000222891.1,