rs587779480

Orientation

plus

Stabilized

plus

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

Make rs587779480(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006991

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779480
dbSNP (classic)	rs587779480
ClinGen	rs587779480
ebi	rs587779480
HLI	rs587779480
Exac	rs587779480
Gnomad	rs587779480
Varsome	rs587779480
LitVar	rs587779480
Map	rs587779480
PheGenI	rs587779480
Biobank	rs587779480
1000 genomes	rs587779480
hgdp	rs587779480
ensembl	rs587779480
geneview	rs587779480
scholar	rs587779480
google	rs587779480
pharmgkb	rs587779480
gwascentral	rs587779480
openSNP	rs587779480
23andMe	rs587779480
SNPshot	rs587779480
SNPdbe	rs587779480
MSV3d	rs587779480
GWAS Ctlg	rs587779480

Max Magnitude

6.5

ClinVar
Risk	rs587779480(A;A)
Alt	rs587779480(A;A)
Reference	Rs587779480(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.189871717G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087412.1,