rs587779564

Orientation

plus

Stabilized

plus

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

Make rs587779564(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189001555

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779564
dbSNP (classic)	rs587779564
ClinGen	rs587779564
ebi	rs587779564
HLI	rs587779564
Exac	rs587779564
Gnomad	rs587779564
Varsome	rs587779564
LitVar	rs587779564
Map	rs587779564
PheGenI	rs587779564
Biobank	rs587779564
1000 genomes	rs587779564
hgdp	rs587779564
ensembl	rs587779564
geneview	rs587779564
scholar	rs587779564
google	rs587779564
pharmgkb	rs587779564
gwascentral	rs587779564
openSNP	rs587779564
23andMe	rs587779564
SNPshot	rs587779564
SNPdbe	rs587779564
MSV3d	rs587779564
GWAS Ctlg	rs587779564

Max Magnitude

6.5

ClinVar
Risk	rs587779564(T;T)
Alt	rs587779564(T;T)
Reference	Rs587779564(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.189866281G>T
CLNSRC
CLNACC	RCV000087512.1,