rs587779704

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;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 rs587779704(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006354

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779704
dbSNP (classic)	rs587779704
ClinGen	rs587779704
ebi	rs587779704
HLI	rs587779704
Exac	rs587779704
Gnomad	rs587779704
Varsome	rs587779704
LitVar	rs587779704
Map	rs587779704
PheGenI	rs587779704
Biobank	rs587779704
1000 genomes	rs587779704
hgdp	rs587779704
ensembl	rs587779704
geneview	rs587779704
scholar	rs587779704
google	rs587779704
pharmgkb	rs587779704
gwascentral	rs587779704
openSNP	rs587779704
23andMe	rs587779704
SNPshot	rs587779704
SNPdbe	rs587779704
MSV3d	rs587779704
GWAS Ctlg	rs587779704

Max Magnitude

6.5

ClinVar
Risk	rs587779704(T;T)
Alt	rs587779704(T;T)
Reference	Rs587779704(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.189871080G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087706.1,