rs587779499

Orientation

plus

Stabilized

plus

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

Make rs587779499(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188993397

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779499
dbSNP (classic)	rs587779499
ClinGen	rs587779499
ebi	rs587779499
HLI	rs587779499
Exac	rs587779499
Gnomad	rs587779499
Varsome	rs587779499
LitVar	rs587779499
Map	rs587779499
PheGenI	rs587779499
Biobank	rs587779499
1000 genomes	rs587779499
hgdp	rs587779499
ensembl	rs587779499
geneview	rs587779499
scholar	rs587779499
google	rs587779499
pharmgkb	rs587779499
gwascentral	rs587779499
openSNP	rs587779499
23andMe	rs587779499
SNPshot	rs587779499
SNPdbe	rs587779499
MSV3d	rs587779499
GWAS Ctlg	rs587779499

Max Magnitude

6.5

ClinVar
Risk	rs587779499(A;A)
Alt	rs587779499(A;A)
Reference	Rs587779499(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.189858123G>A
CLNSRC
CLNACC	RCV000087433.1,