rs587779553

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.5	Ehlers-Danlos Syndrome (EDS) type 4
(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 rs587779553(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189008107

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779553
dbSNP (classic)	rs587779553
ClinGen	rs587779553
ebi	rs587779553
HLI	rs587779553
Exac	rs587779553
Gnomad	rs587779553
Varsome	rs587779553
LitVar	rs587779553
Map	rs587779553
PheGenI	rs587779553
Biobank	rs587779553
1000 genomes	rs587779553
hgdp	rs587779553
ensembl	rs587779553
geneview	rs587779553
scholar	rs587779553
google	rs587779553
pharmgkb	rs587779553
gwascentral	rs587779553
openSNP	rs587779553
23andMe	rs587779553
SNPshot	rs587779553
SNPdbe	rs587779553
MSV3d	rs587779553
GWAS Ctlg	rs587779553

Max Magnitude

6.5

ClinVar
Risk	rs587779553(A;A) rs587779553(C;C) rs587779553(T;T)
Alt	rs587779553(A;A) rs587779553(C;C) rs587779553(T;T)
Reference	Rs587779553(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.189872833G>A; NC_000002.11:g.189872833G>C; NC_000002.11:g.189872833G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087640.1, RCV000087704.1, RCV000087494.1,