rs587779579

Orientation

plus

Stabilized

plus

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

Make rs587779579(-;GACCCTGCA)

Make rs587779579(GACCCTGCA;GACCCTGCA)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188993378

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779579
dbSNP (classic)	rs587779579
ClinGen	rs587779579
ebi	rs587779579
HLI	rs587779579
Exac	rs587779579
Gnomad	rs587779579
Varsome	rs587779579
LitVar	rs587779579
Map	rs587779579
PheGenI	rs587779579
Biobank	rs587779579
1000 genomes	rs587779579
hgdp	rs587779579
ensembl	rs587779579
geneview	rs587779579
scholar	rs587779579
google	rs587779579
pharmgkb	rs587779579
gwascentral	rs587779579
openSNP	rs587779579
23andMe	rs587779579
SNPshot	rs587779579
SNPdbe	rs587779579
MSV3d	rs587779579
GWAS Ctlg	rs587779579

Max Magnitude

6.5

ClinVar
Risk	rs587779579(CCTGCAGAC;CCTGCAGAC)
Alt	rs587779579(CCTGCAGAC;CCTGCAGAC)
Reference	Rs587779579(-;-)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189858104_189858105insGACCCTGCA
CLNSRC
CLNACC	RCV000087528.1,