rs587779590

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(TAGTAATGTAAGTA;TAGTAATGTAAGTA)	0	common in clinvar

Make rs587779590(GACCTGAGAC;GACCTGAGAC)

Make rs587779590(GACCTGAGAC;TAGTAATGTAAGTA)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189003781

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779590
dbSNP (classic)	rs587779590
ClinGen	rs587779590
ebi	rs587779590
HLI	rs587779590
Exac	rs587779590
Gnomad	rs587779590
Varsome	rs587779590
LitVar	rs587779590
Map	rs587779590
PheGenI	rs587779590
Biobank	rs587779590
1000 genomes	rs587779590
hgdp	rs587779590
ensembl	rs587779590
geneview	rs587779590
scholar	rs587779590
google	rs587779590
pharmgkb	rs587779590
gwascentral	rs587779590
openSNP	rs587779590
23andMe	rs587779590
SNPshot	rs587779590
SNPdbe	rs587779590
MSV3d	rs587779590
GWAS Ctlg	rs587779590

Max Magnitude

0

ClinVar
Risk	rs587779590(GACCTGAGAC;GACCTGAGAC)
Alt	rs587779590(GACCTGAGAC;GACCTGAGAC)
Reference	Rs587779590(TAGTAATGTAAGTA;TAGTAATGTAAGTA)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189868507_189868520delTAGTAATGTAAGTAinsGACCTGAGAC
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087542.1,