rs587779570

Orientation

plus

Stabilized

plus

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

Make rs587779570(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188990142

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779570
dbSNP (classic)	rs587779570
ClinGen	rs587779570
ebi	rs587779570
HLI	rs587779570
Exac	rs587779570
Gnomad	rs587779570
Varsome	rs587779570
LitVar	rs587779570
Map	rs587779570
PheGenI	rs587779570
Biobank	rs587779570
1000 genomes	rs587779570
hgdp	rs587779570
ensembl	rs587779570
geneview	rs587779570
scholar	rs587779570
google	rs587779570
pharmgkb	rs587779570
gwascentral	rs587779570
openSNP	rs587779570
23andMe	rs587779570
SNPshot	rs587779570
SNPdbe	rs587779570
MSV3d	rs587779570
GWAS Ctlg	rs587779570

Max Magnitude

6.5

ClinVar
Risk	rs587779570(A;A)
Alt	rs587779570(A;A)
Reference	Rs587779570(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.189854868G>A
CLNSRC
CLNACC	RCV000087519.1,