rs587779685

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 rs587779685(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999569

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779685
dbSNP (classic)	rs587779685
ClinGen	rs587779685
ebi	rs587779685
HLI	rs587779685
Exac	rs587779685
Gnomad	rs587779685
Varsome	rs587779685
LitVar	rs587779685
Map	rs587779685
PheGenI	rs587779685
Biobank	rs587779685
1000 genomes	rs587779685
hgdp	rs587779685
ensembl	rs587779685
geneview	rs587779685
scholar	rs587779685
google	rs587779685
pharmgkb	rs587779685
gwascentral	rs587779685
openSNP	rs587779685
23andMe	rs587779685
SNPshot	rs587779685
SNPdbe	rs587779685
MSV3d	rs587779685
GWAS Ctlg	rs587779685

Max Magnitude

6.5

ClinVar
Risk	rs587779685(A;A)
Alt	rs587779685(A;A)
Reference	Rs587779685(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome not provided
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4 not provided
Reversed	0
HGVS	NC_000002.11:g.189864295G>A; NC_000002.11:g.189864295G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087682.1, RCV000492987.1,