rs587779684

Orientation

plus

Stabilized

plus

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

Make rs587779684(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189003064

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779684
dbSNP (classic)	rs587779684
ClinGen	rs587779684
ebi	rs587779684
HLI	rs587779684
Exac	rs587779684
Gnomad	rs587779684
Varsome	rs587779684
LitVar	rs587779684
Map	rs587779684
PheGenI	rs587779684
Biobank	rs587779684
1000 genomes	rs587779684
hgdp	rs587779684
ensembl	rs587779684
geneview	rs587779684
scholar	rs587779684
google	rs587779684
pharmgkb	rs587779684
gwascentral	rs587779684
openSNP	rs587779684
23andMe	rs587779684
SNPshot	rs587779684
SNPdbe	rs587779684
MSV3d	rs587779684
GWAS Ctlg	rs587779684

Max Magnitude

6.5

ClinVar
Risk	rs587779684(C;C)
Alt	rs587779684(C;C)
Reference	Rs587779684(T;T)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189867790T>C
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087681.1,