rs587779434

Orientation

plus

Stabilized

plus

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

Make rs587779434(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004294

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779434
dbSNP (classic)	rs587779434
ClinGen	rs587779434
ebi	rs587779434
HLI	rs587779434
Exac	rs587779434
Gnomad	rs587779434
Varsome	rs587779434
LitVar	rs587779434
Map	rs587779434
PheGenI	rs587779434
Biobank	rs587779434
1000 genomes	rs587779434
hgdp	rs587779434
ensembl	rs587779434
geneview	rs587779434
scholar	rs587779434
google	rs587779434
pharmgkb	rs587779434
gwascentral	rs587779434
openSNP	rs587779434
23andMe	rs587779434
SNPshot	rs587779434
SNPdbe	rs587779434
MSV3d	rs587779434
GWAS Ctlg	rs587779434

Max Magnitude

6.5

ClinVar
Risk	rs587779434(A;A)
Alt	rs587779434(A;A)
Reference	Rs587779434(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.189869020G>A
CLNSRC
CLNACC	RCV000087358.1,