rs587779580

Orientation

plus

Stabilized

plus

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

Make rs587779580(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004338

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779580
dbSNP (classic)	rs587779580
ClinGen	rs587779580
ebi	rs587779580
HLI	rs587779580
Exac	rs587779580
Gnomad	rs587779580
Varsome	rs587779580
LitVar	rs587779580
Map	rs587779580
PheGenI	rs587779580
Biobank	rs587779580
1000 genomes	rs587779580
hgdp	rs587779580
ensembl	rs587779580
geneview	rs587779580
scholar	rs587779580
google	rs587779580
pharmgkb	rs587779580
gwascentral	rs587779580
openSNP	rs587779580
23andMe	rs587779580
SNPshot	rs587779580
SNPdbe	rs587779580
MSV3d	rs587779580
GWAS Ctlg	rs587779580

Max Magnitude

6.5

ClinVar
Risk	rs587779580(A;A)
Alt	rs587779580(A;A)
Reference	Rs587779580(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.189869064G>A
CLNSRC
CLNACC	RCV000087529.1,