rs587779674

Orientation

plus

Stabilized

plus

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

Make rs587779674(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004293

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779674
dbSNP (classic)	rs587779674
ClinGen	rs587779674
ebi	rs587779674
HLI	rs587779674
Exac	rs587779674
Gnomad	rs587779674
Varsome	rs587779674
LitVar	rs587779674
Map	rs587779674
PheGenI	rs587779674
Biobank	rs587779674
1000 genomes	rs587779674
hgdp	rs587779674
ensembl	rs587779674
geneview	rs587779674
scholar	rs587779674
google	rs587779674
pharmgkb	rs587779674
gwascentral	rs587779674
openSNP	rs587779674
23andMe	rs587779674
SNPshot	rs587779674
SNPdbe	rs587779674
MSV3d	rs587779674
GWAS Ctlg	rs587779674

Max Magnitude

6.5

ClinVar
Risk	rs587779674(A;A)
Alt	rs587779674(A;A)
Reference	Rs587779674(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.189869019G>A
CLNSRC
CLNACC	RCV000087669.1,