rs587779541

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 rs587779541(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189001398

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779541
dbSNP (classic)	rs587779541
ClinGen	rs587779541
ebi	rs587779541
HLI	rs587779541
Exac	rs587779541
Gnomad	rs587779541
Varsome	rs587779541
LitVar	rs587779541
Map	rs587779541
PheGenI	rs587779541
Biobank	rs587779541
1000 genomes	rs587779541
hgdp	rs587779541
ensembl	rs587779541
geneview	rs587779541
scholar	rs587779541
google	rs587779541
pharmgkb	rs587779541
gwascentral	rs587779541
openSNP	rs587779541
23andMe	rs587779541
SNPshot	rs587779541
SNPdbe	rs587779541
MSV3d	rs587779541
GWAS Ctlg	rs587779541

Max Magnitude

6.5

ClinVar
Risk	rs587779541(A;A) rs587779541(T;T)
Alt	rs587779541(A;A) rs587779541(T;T)
Reference	Rs587779541(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.189866124G>A; NC_000002.11:g.189866124G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087615.1, RCV000087482.1,