rs587779571

Orientation

plus

Stabilized

plus

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

Make rs587779571(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004330

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779571
dbSNP (classic)	rs587779571
ClinGen	rs587779571
ebi	rs587779571
HLI	rs587779571
Exac	rs587779571
Gnomad	rs587779571
Varsome	rs587779571
LitVar	rs587779571
Map	rs587779571
PheGenI	rs587779571
Biobank	rs587779571
1000 genomes	rs587779571
hgdp	rs587779571
ensembl	rs587779571
geneview	rs587779571
scholar	rs587779571
google	rs587779571
pharmgkb	rs587779571
gwascentral	rs587779571
openSNP	rs587779571
23andMe	rs587779571
SNPshot	rs587779571
SNPdbe	rs587779571
MSV3d	rs587779571
GWAS Ctlg	rs587779571

Max Magnitude

6.5

ClinVar
Risk	rs587779571(T;T)
Alt	rs587779571(T;T)
Reference	Rs587779571(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.189869056G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087520.1,