rs587779661

Orientation

plus

Stabilized

plus

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

Make rs587779661(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188998267

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779661
dbSNP (classic)	rs587779661
ClinGen	rs587779661
ebi	rs587779661
HLI	rs587779661
Exac	rs587779661
Gnomad	rs587779661
Varsome	rs587779661
LitVar	rs587779661
Map	rs587779661
PheGenI	rs587779661
Biobank	rs587779661
1000 genomes	rs587779661
hgdp	rs587779661
ensembl	rs587779661
geneview	rs587779661
scholar	rs587779661
google	rs587779661
pharmgkb	rs587779661
gwascentral	rs587779661
openSNP	rs587779661
23andMe	rs587779661
SNPshot	rs587779661
SNPdbe	rs587779661
MSV3d	rs587779661
GWAS Ctlg	rs587779661

Max Magnitude

6.5

ClinVar
Risk	rs587779661(T;T)
Alt	rs587779661(T;T)
Reference	Rs587779661(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.189862993G>T
CLNSRC
CLNACC	RCV000087644.1,