rs587779563

Orientation

plus

Stabilized

plus

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

Make rs587779563(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006444

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779563
dbSNP (classic)	rs587779563
ClinGen	rs587779563
ebi	rs587779563
HLI	rs587779563
Exac	rs587779563
Gnomad	rs587779563
Varsome	rs587779563
LitVar	rs587779563
Map	rs587779563
PheGenI	rs587779563
Biobank	rs587779563
1000 genomes	rs587779563
hgdp	rs587779563
ensembl	rs587779563
geneview	rs587779563
scholar	rs587779563
google	rs587779563
pharmgkb	rs587779563
gwascentral	rs587779563
openSNP	rs587779563
23andMe	rs587779563
SNPshot	rs587779563
SNPdbe	rs587779563
MSV3d	rs587779563
GWAS Ctlg	rs587779563

Max Magnitude

6.5

ClinVar
Risk	rs587779563(A;A)
Alt	rs587779563(A;A)
Reference	Rs587779563(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.189871170G>A
CLNSRC
CLNACC	RCV000087511.1,