rs587779425

Orientation

plus

Stabilized

plus

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

Make rs587779425(-;-)

Make rs587779425(AGTGAGTATAGCTGC;AGTGAGTATAGCTGC)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188991722

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779425
dbSNP (classic)	rs587779425
ClinGen	rs587779425
ebi	rs587779425
HLI	rs587779425
Exac	rs587779425
Gnomad	rs587779425
Varsome	rs587779425
LitVar	rs587779425
Map	rs587779425
PheGenI	rs587779425
Biobank	rs587779425
1000 genomes	rs587779425
hgdp	rs587779425
ensembl	rs587779425
geneview	rs587779425
scholar	rs587779425
google	rs587779425
pharmgkb	rs587779425
gwascentral	rs587779425
openSNP	rs587779425
23andMe	rs587779425
SNPshot	rs587779425
SNPdbe	rs587779425
MSV3d	rs587779425
GWAS Ctlg	rs587779425

Max Magnitude

6.5

ClinVar
Risk	rs587779425(-;-)
Alt	rs587779425(-;-)
Reference	Rs587779425(GCTGCAGTGAGTATA;GCTGCAGTGAGTATA)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189856448_189856462delAGTGAGTATAGCTGC
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087348.1,