rs587779513

Orientation

plus

Stabilized

plus

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

Make rs587779513(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189001452

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779513
dbSNP (classic)	rs587779513
ClinGen	rs587779513
ebi	rs587779513
HLI	rs587779513
Exac	rs587779513
Gnomad	rs587779513
Varsome	rs587779513
LitVar	rs587779513
Map	rs587779513
PheGenI	rs587779513
Biobank	rs587779513
1000 genomes	rs587779513
hgdp	rs587779513
ensembl	rs587779513
geneview	rs587779513
scholar	rs587779513
google	rs587779513
pharmgkb	rs587779513
gwascentral	rs587779513
openSNP	rs587779513
23andMe	rs587779513
SNPshot	rs587779513
SNPdbe	rs587779513
MSV3d	rs587779513
GWAS Ctlg	rs587779513

Max Magnitude

6.5

ClinVar
Risk	rs587779513(C;C)
Alt	rs587779513(C;C)
Reference	Rs587779513(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.189866178T>C
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087450.1,