rs587779567

Orientation

plus

Stabilized

plus

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

Make rs587779567(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004266

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779567
dbSNP (classic)	rs587779567
ClinGen	rs587779567
ebi	rs587779567
HLI	rs587779567
Exac	rs587779567
Gnomad	rs587779567
Varsome	rs587779567
LitVar	rs587779567
Map	rs587779567
PheGenI	rs587779567
Biobank	rs587779567
1000 genomes	rs587779567
hgdp	rs587779567
ensembl	rs587779567
geneview	rs587779567
scholar	rs587779567
google	rs587779567
pharmgkb	rs587779567
gwascentral	rs587779567
openSNP	rs587779567
23andMe	rs587779567
SNPshot	rs587779567
SNPdbe	rs587779567
MSV3d	rs587779567
GWAS Ctlg	rs587779567

Max Magnitude

6.5

ClinVar
Risk	rs587779567(A;A)
Alt	rs587779567(A;A)
Reference	Rs587779567(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.189868992G>A
CLNSRC
CLNACC	RCV000087516.1,