rs587779595

Orientation

plus

Stabilized

plus

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

Make rs587779595(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189005351

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779595
dbSNP (classic)	rs587779595
ClinGen	rs587779595
ebi	rs587779595
HLI	rs587779595
Exac	rs587779595
Gnomad	rs587779595
Varsome	rs587779595
LitVar	rs587779595
Map	rs587779595
PheGenI	rs587779595
Biobank	rs587779595
1000 genomes	rs587779595
hgdp	rs587779595
ensembl	rs587779595
geneview	rs587779595
scholar	rs587779595
google	rs587779595
pharmgkb	rs587779595
gwascentral	rs587779595
openSNP	rs587779595
23andMe	rs587779595
SNPshot	rs587779595
SNPdbe	rs587779595
MSV3d	rs587779595
GWAS Ctlg	rs587779595

Max Magnitude

6.5

ClinVar
Risk	rs587779595(A;A)
Alt	rs587779595(A;A)
Reference	Rs587779595(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.189870077G>A
CLNSRC
CLNACC	RCV000087547.1,