rs587779538

Orientation

plus

Stabilized

plus

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

Make rs587779538(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188993464

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779538
dbSNP (classic)	rs587779538
ClinGen	rs587779538
ebi	rs587779538
HLI	rs587779538
Exac	rs587779538
Gnomad	rs587779538
Varsome	rs587779538
LitVar	rs587779538
Map	rs587779538
PheGenI	rs587779538
Biobank	rs587779538
1000 genomes	rs587779538
hgdp	rs587779538
ensembl	rs587779538
geneview	rs587779538
scholar	rs587779538
google	rs587779538
pharmgkb	rs587779538
gwascentral	rs587779538
openSNP	rs587779538
23andMe	rs587779538
SNPshot	rs587779538
SNPdbe	rs587779538
MSV3d	rs587779538
GWAS Ctlg	rs587779538

Max Magnitude

6.5

ClinVar
Risk	rs587779538(A;A)
Alt	rs587779538(A;A)
Reference	Rs587779538(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.189858190G>A
CLNSRC
CLNACC	RCV000087478.1,