rs587779676

Orientation

plus

Stabilized

plus

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

Make rs587779676(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188988644

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779676
dbSNP (classic)	rs587779676
ClinGen	rs587779676
ebi	rs587779676
HLI	rs587779676
Exac	rs587779676
Gnomad	rs587779676
Varsome	rs587779676
LitVar	rs587779676
Map	rs587779676
PheGenI	rs587779676
Biobank	rs587779676
1000 genomes	rs587779676
hgdp	rs587779676
ensembl	rs587779676
geneview	rs587779676
scholar	rs587779676
google	rs587779676
pharmgkb	rs587779676
gwascentral	rs587779676
openSNP	rs587779676
23andMe	rs587779676
SNPshot	rs587779676
SNPdbe	rs587779676
MSV3d	rs587779676
GWAS Ctlg	rs587779676

Max Magnitude

6.5

ClinVar
Risk	rs587779676(A;A)
Alt	rs587779676(A;A)
Reference	Rs587779676(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.189853370G>A
CLNSRC
CLNACC	RCV000087671.1,