rs587779562

Orientation

plus

Stabilized

plus

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

Make rs587779562(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189008034

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779562
dbSNP (classic)	rs587779562
ClinGen	rs587779562
ebi	rs587779562
HLI	rs587779562
Exac	rs587779562
Gnomad	rs587779562
Varsome	rs587779562
LitVar	rs587779562
Map	rs587779562
PheGenI	rs587779562
Biobank	rs587779562
1000 genomes	rs587779562
hgdp	rs587779562
ensembl	rs587779562
geneview	rs587779562
scholar	rs587779562
google	rs587779562
pharmgkb	rs587779562
gwascentral	rs587779562
openSNP	rs587779562
23andMe	rs587779562
SNPshot	rs587779562
SNPdbe	rs587779562
MSV3d	rs587779562
GWAS Ctlg	rs587779562

Max Magnitude

6.5

ClinVar
Risk	rs587779562(T;T)
Alt	rs587779562(T;T)
Reference	Rs587779562(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.189872760G>T
CLNSRC
CLNACC	RCV000087510.1,