rs587779697

Orientation

plus

Stabilized

plus

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

Make rs587779697(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999843

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779697
dbSNP (classic)	rs587779697
ClinGen	rs587779697
ebi	rs587779697
HLI	rs587779697
Exac	rs587779697
Gnomad	rs587779697
Varsome	rs587779697
LitVar	rs587779697
Map	rs587779697
PheGenI	rs587779697
Biobank	rs587779697
1000 genomes	rs587779697
hgdp	rs587779697
ensembl	rs587779697
geneview	rs587779697
scholar	rs587779697
google	rs587779697
pharmgkb	rs587779697
gwascentral	rs587779697
openSNP	rs587779697
23andMe	rs587779697
SNPshot	rs587779697
SNPdbe	rs587779697
MSV3d	rs587779697
GWAS Ctlg	rs587779697

Max Magnitude

6.5

ClinVar
Risk	rs587779697(T;T)
Alt	rs587779697(T;T)
Reference	Rs587779697(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.189864569G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087695.1,