rs587779614

Orientation

plus

Stabilized

plus

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

Make rs587779614(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189007537

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779614
dbSNP (classic)	rs587779614
ClinGen	rs587779614
ebi	rs587779614
HLI	rs587779614
Exac	rs587779614
Gnomad	rs587779614
Varsome	rs587779614
LitVar	rs587779614
Map	rs587779614
PheGenI	rs587779614
Biobank	rs587779614
1000 genomes	rs587779614
hgdp	rs587779614
ensembl	rs587779614
geneview	rs587779614
scholar	rs587779614
google	rs587779614
pharmgkb	rs587779614
gwascentral	rs587779614
openSNP	rs587779614
23andMe	rs587779614
SNPshot	rs587779614
SNPdbe	rs587779614
MSV3d	rs587779614
GWAS Ctlg	rs587779614

Max Magnitude

6.5

ClinVar
Risk	rs587779614(T;T)
Alt	rs587779614(T;T)
Reference	Rs587779614(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.189872263G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087572.1,