rs587779484

Orientation

plus

Stabilized

plus

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

Make rs587779484(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999551

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779484
dbSNP (classic)	rs587779484
ClinGen	rs587779484
ebi	rs587779484
HLI	rs587779484
Exac	rs587779484
Gnomad	rs587779484
Varsome	rs587779484
LitVar	rs587779484
Map	rs587779484
PheGenI	rs587779484
Biobank	rs587779484
1000 genomes	rs587779484
hgdp	rs587779484
ensembl	rs587779484
geneview	rs587779484
scholar	rs587779484
google	rs587779484
pharmgkb	rs587779484
gwascentral	rs587779484
openSNP	rs587779484
23andMe	rs587779484
SNPshot	rs587779484
SNPdbe	rs587779484
MSV3d	rs587779484
GWAS Ctlg	rs587779484

Max Magnitude

6.5

ClinVar
Risk	rs587779484(A;A)
Alt	rs587779484(A;A)
Reference	Rs587779484(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.189864277G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087416.1,