rs587779680

Orientation

plus

Stabilized

plus

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

Make rs587779680(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999534

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779680
dbSNP (classic)	rs587779680
ClinGen	rs587779680
ebi	rs587779680
HLI	rs587779680
Exac	rs587779680
Gnomad	rs587779680
Varsome	rs587779680
LitVar	rs587779680
Map	rs587779680
PheGenI	rs587779680
Biobank	rs587779680
1000 genomes	rs587779680
hgdp	rs587779680
ensembl	rs587779680
geneview	rs587779680
scholar	rs587779680
google	rs587779680
pharmgkb	rs587779680
gwascentral	rs587779680
openSNP	rs587779680
23andMe	rs587779680
SNPshot	rs587779680
SNPdbe	rs587779680
MSV3d	rs587779680
GWAS Ctlg	rs587779680

Max Magnitude

6.5

ClinVar
Risk	rs587779680(A;A)
Alt	rs587779680(A;A)
Reference	Rs587779680(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.189864260G>A
CLNSRC
CLNACC	RCV000087676.1,