rs587779452

Orientation

plus

Stabilized

plus

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

Make rs587779452(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188991725

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779452
dbSNP (classic)	rs587779452
ClinGen	rs587779452
ebi	rs587779452
HLI	rs587779452
Exac	rs587779452
Gnomad	rs587779452
Varsome	rs587779452
LitVar	rs587779452
Map	rs587779452
PheGenI	rs587779452
Biobank	rs587779452
1000 genomes	rs587779452
hgdp	rs587779452
ensembl	rs587779452
geneview	rs587779452
scholar	rs587779452
google	rs587779452
pharmgkb	rs587779452
gwascentral	rs587779452
openSNP	rs587779452
23andMe	rs587779452
SNPshot	rs587779452
SNPdbe	rs587779452
MSV3d	rs587779452
GWAS Ctlg	rs587779452

Max Magnitude

6.5

ClinVar
Risk	rs587779452(T;T)
Alt	rs587779452(T;T)
Reference	Rs587779452(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.189856451G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087379.1,