rs587779656

Orientation

plus

Stabilized

plus

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

Make rs587779656(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188990106

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779656
dbSNP (classic)	rs587779656
ClinGen	rs587779656
ebi	rs587779656
HLI	rs587779656
Exac	rs587779656
Gnomad	rs587779656
Varsome	rs587779656
LitVar	rs587779656
Map	rs587779656
PheGenI	rs587779656
Biobank	rs587779656
1000 genomes	rs587779656
hgdp	rs587779656
ensembl	rs587779656
geneview	rs587779656
scholar	rs587779656
google	rs587779656
pharmgkb	rs587779656
gwascentral	rs587779656
openSNP	rs587779656
23andMe	rs587779656
SNPshot	rs587779656
SNPdbe	rs587779656
MSV3d	rs587779656
GWAS Ctlg	rs587779656

Max Magnitude

6.5

ClinVar
Risk	rs587779656(A;A)
Alt	rs587779656(A;A)
Reference	Rs587779656(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189854832G>A
CLNSRC
CLNACC	RCV000087637.1,