rs587779516

Orientation

plus

Stabilized

plus

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

Make rs587779516(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188992229

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779516
dbSNP (classic)	rs587779516
ClinGen	rs587779516
ebi	rs587779516
HLI	rs587779516
Exac	rs587779516
Gnomad	rs587779516
Varsome	rs587779516
LitVar	rs587779516
Map	rs587779516
PheGenI	rs587779516
Biobank	rs587779516
1000 genomes	rs587779516
hgdp	rs587779516
ensembl	rs587779516
geneview	rs587779516
scholar	rs587779516
google	rs587779516
pharmgkb	rs587779516
gwascentral	rs587779516
openSNP	rs587779516
23andMe	rs587779516
SNPshot	rs587779516
SNPdbe	rs587779516
MSV3d	rs587779516
GWAS Ctlg	rs587779516

Max Magnitude

6.5

ClinVar
Risk	rs587779516(A;A)
Alt	rs587779516(A;A)
Reference	Rs587779516(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.189856955G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087453.1,