rs587779710

Orientation

plus

Stabilized

plus

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

Make rs587779710(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188988127

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779710
dbSNP (classic)	rs587779710
ClinGen	rs587779710
ebi	rs587779710
HLI	rs587779710
Exac	rs587779710
Gnomad	rs587779710
Varsome	rs587779710
LitVar	rs587779710
Map	rs587779710
PheGenI	rs587779710
Biobank	rs587779710
1000 genomes	rs587779710
hgdp	rs587779710
ensembl	rs587779710
geneview	rs587779710
scholar	rs587779710
google	rs587779710
pharmgkb	rs587779710
gwascentral	rs587779710
openSNP	rs587779710
23andMe	rs587779710
SNPshot	rs587779710
SNPdbe	rs587779710
MSV3d	rs587779710
GWAS Ctlg	rs587779710

Max Magnitude

6.5

ClinVar
Risk	rs587779710(T;T)
Alt	rs587779710(T;T)
Reference	Rs587779710(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.189852853G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087716.1,