rs587779542

Orientation

plus

Stabilized

plus

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

Make rs587779542(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004357

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779542
dbSNP (classic)	rs587779542
ClinGen	rs587779542
ebi	rs587779542
HLI	rs587779542
Exac	rs587779542
Gnomad	rs587779542
Varsome	rs587779542
LitVar	rs587779542
Map	rs587779542
PheGenI	rs587779542
Biobank	rs587779542
1000 genomes	rs587779542
hgdp	rs587779542
ensembl	rs587779542
geneview	rs587779542
scholar	rs587779542
google	rs587779542
pharmgkb	rs587779542
gwascentral	rs587779542
openSNP	rs587779542
23andMe	rs587779542
SNPshot	rs587779542
SNPdbe	rs587779542
MSV3d	rs587779542
GWAS Ctlg	rs587779542

Max Magnitude

6.5

ClinVar
Risk	rs587779542(T;T)
Alt	rs587779542(T;T)
Reference	Rs587779542(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.189869083G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087483.1,