rs587779457

Orientation

plus

Stabilized

plus

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

Make rs587779457(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189003469

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779457
dbSNP (classic)	rs587779457
ClinGen	rs587779457
ebi	rs587779457
HLI	rs587779457
Exac	rs587779457
Gnomad	rs587779457
Varsome	rs587779457
LitVar	rs587779457
Map	rs587779457
PheGenI	rs587779457
Biobank	rs587779457
1000 genomes	rs587779457
hgdp	rs587779457
ensembl	rs587779457
geneview	rs587779457
scholar	rs587779457
google	rs587779457
pharmgkb	rs587779457
gwascentral	rs587779457
openSNP	rs587779457
23andMe	rs587779457
SNPshot	rs587779457
SNPdbe	rs587779457
MSV3d	rs587779457
GWAS Ctlg	rs587779457

Max Magnitude

6.5

ClinVar
Risk	rs587779457(A;A) rs587779457(T;T)
Alt	rs587779457(A;A) rs587779457(T;T)
Reference	Rs587779457(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.189868195G>A; NC_000002.11:g.189868195G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087647.1, RCV000087386.1,