rs587779558

Orientation

plus

Stabilized

plus

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

Make rs587779558(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189001395

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779558
dbSNP (classic)	rs587779558
ClinGen	rs587779558
ebi	rs587779558
HLI	rs587779558
Exac	rs587779558
Gnomad	rs587779558
Varsome	rs587779558
LitVar	rs587779558
Map	rs587779558
PheGenI	rs587779558
Biobank	rs587779558
1000 genomes	rs587779558
hgdp	rs587779558
ensembl	rs587779558
geneview	rs587779558
scholar	rs587779558
google	rs587779558
pharmgkb	rs587779558
gwascentral	rs587779558
openSNP	rs587779558
23andMe	rs587779558
SNPshot	rs587779558
SNPdbe	rs587779558
MSV3d	rs587779558
GWAS Ctlg	rs587779558

Max Magnitude

6.5

ClinVar
Risk	rs587779558(G;G)
Alt	rs587779558(G;G)
Reference	Rs587779558(A;A)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189866121A>G
CLNSRC
CLNACC	RCV000087500.1,