rs587779523

Orientation

plus

Stabilized

plus

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

Make rs587779523(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188995091

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs587779523
dbSNP (classic)	rs587779523
ClinGen	rs587779523
ebi	rs587779523
HLI	rs587779523
Exac	rs587779523
Gnomad	rs587779523
Varsome	rs587779523
LitVar	rs587779523
Map	rs587779523
PheGenI	rs587779523
Biobank	rs587779523
1000 genomes	rs587779523
hgdp	rs587779523
ensembl	rs587779523
geneview	rs587779523
scholar	rs587779523
google	rs587779523
pharmgkb	rs587779523
gwascentral	rs587779523
openSNP	rs587779523
23andMe	rs587779523
SNPshot	rs587779523
SNPdbe	rs587779523
MSV3d	rs587779523
GWAS Ctlg	rs587779523

Max Magnitude

6.5

ClinVar
Risk	rs587779523(A;A)
Alt	rs587779523(A;A)
Reference	Rs587779523(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1 MIR3606
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189859817G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087460.1,