rs587779428

Orientation

plus

Stabilized

plus

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

Make rs587779428(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006346

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779428
dbSNP (classic)	rs587779428
ClinGen	rs587779428
ebi	rs587779428
HLI	rs587779428
Exac	rs587779428
Gnomad	rs587779428
Varsome	rs587779428
LitVar	rs587779428
Map	rs587779428
PheGenI	rs587779428
Biobank	rs587779428
1000 genomes	rs587779428
hgdp	rs587779428
ensembl	rs587779428
geneview	rs587779428
scholar	rs587779428
google	rs587779428
pharmgkb	rs587779428
gwascentral	rs587779428
openSNP	rs587779428
23andMe	rs587779428
SNPshot	rs587779428
SNPdbe	rs587779428
MSV3d	rs587779428
GWAS Ctlg	rs587779428

Max Magnitude

6.5

ClinVar
Risk	rs587779428(T;T)
Alt	rs587779428(T;T)
Reference	Rs587779428(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.189871072G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087351.1,