rs587779622

Orientation

plus

Stabilized

plus

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

Make rs587779622(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189003771

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779622
dbSNP (classic)	rs587779622
ClinGen	rs587779622
ebi	rs587779622
HLI	rs587779622
Exac	rs587779622
Gnomad	rs587779622
Varsome	rs587779622
LitVar	rs587779622
Map	rs587779622
PheGenI	rs587779622
Biobank	rs587779622
1000 genomes	rs587779622
hgdp	rs587779622
ensembl	rs587779622
geneview	rs587779622
scholar	rs587779622
google	rs587779622
pharmgkb	rs587779622
gwascentral	rs587779622
openSNP	rs587779622
23andMe	rs587779622
SNPshot	rs587779622
SNPdbe	rs587779622
MSV3d	rs587779622
GWAS Ctlg	rs587779622

Max Magnitude

6.5

ClinVar
Risk	rs587779622(A;A)
Alt	rs587779622(A;A)
Reference	Rs587779622(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.189868497G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087583.1,