rs587779529

Orientation

plus

Stabilized

plus

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

Make rs587779529(-;-)

Make rs587779529(CTT;CTT)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006227

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779529
dbSNP (classic)	rs587779529
ClinGen	rs587779529
ebi	rs587779529
HLI	rs587779529
Exac	rs587779529
Gnomad	rs587779529
Varsome	rs587779529
LitVar	rs587779529
Map	rs587779529
PheGenI	rs587779529
Biobank	rs587779529
1000 genomes	rs587779529
hgdp	rs587779529
ensembl	rs587779529
geneview	rs587779529
scholar	rs587779529
google	rs587779529
pharmgkb	rs587779529
gwascentral	rs587779529
openSNP	rs587779529
23andMe	rs587779529
SNPshot	rs587779529
SNPdbe	rs587779529
MSV3d	rs587779529
GWAS Ctlg	rs587779529

Max Magnitude

6.5

ClinVar
Risk	rs587779529(-;-)
Alt	rs587779529(-;-)
Reference	Rs587779529(TCT;TCT)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189870953_189870955delCTT
CLNSRC
CLNACC	RCV000087468.1,