rs587779530

Orientation

plus

Stabilized

plus

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

Make rs587779530(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188996498

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779530
dbSNP (classic)	rs587779530
ClinGen	rs587779530
ebi	rs587779530
HLI	rs587779530
Exac	rs587779530
Gnomad	rs587779530
Varsome	rs587779530
LitVar	rs587779530
Map	rs587779530
PheGenI	rs587779530
Biobank	rs587779530
1000 genomes	rs587779530
hgdp	rs587779530
ensembl	rs587779530
geneview	rs587779530
scholar	rs587779530
google	rs587779530
pharmgkb	rs587779530
gwascentral	rs587779530
openSNP	rs587779530
23andMe	rs587779530
SNPshot	rs587779530
SNPdbe	rs587779530
MSV3d	rs587779530
GWAS Ctlg	rs587779530

Max Magnitude

6.5

ClinVar
Risk	rs587779530(C;C) rs587779530(G;G)
Alt	rs587779530(C;C) rs587779530(G;G)
Reference	Rs587779530(T;T)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189861224T>C; NC_000002.11:g.189861224T>G
CLNSRC
CLNACC	RCV000087469.1, RCV000087588.1,