rs587779543

Orientation

plus

Stabilized

plus

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

Make rs587779543(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999533

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779543
dbSNP (classic)	rs587779543
ClinGen	rs587779543
ebi	rs587779543
HLI	rs587779543
Exac	rs587779543
Gnomad	rs587779543
Varsome	rs587779543
LitVar	rs587779543
Map	rs587779543
PheGenI	rs587779543
Biobank	rs587779543
1000 genomes	rs587779543
hgdp	rs587779543
ensembl	rs587779543
geneview	rs587779543
scholar	rs587779543
google	rs587779543
pharmgkb	rs587779543
gwascentral	rs587779543
openSNP	rs587779543
23andMe	rs587779543
SNPshot	rs587779543
SNPdbe	rs587779543
MSV3d	rs587779543
GWAS Ctlg	rs587779543

Max Magnitude

6.5

ClinVar
Risk	rs587779543(A;A)
Alt	rs587779543(A;A)
Reference	Rs587779543(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.189864259G>A
CLNSRC
CLNACC	RCV000087484.1,