rs587779429

Orientation

plus

Stabilized

plus

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

Make rs587779429(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188998720

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779429
dbSNP (classic)	rs587779429
ClinGen	rs587779429
ebi	rs587779429
HLI	rs587779429
Exac	rs587779429
Gnomad	rs587779429
Varsome	rs587779429
LitVar	rs587779429
Map	rs587779429
PheGenI	rs587779429
Biobank	rs587779429
1000 genomes	rs587779429
hgdp	rs587779429
ensembl	rs587779429
geneview	rs587779429
scholar	rs587779429
google	rs587779429
pharmgkb	rs587779429
gwascentral	rs587779429
openSNP	rs587779429
23andMe	rs587779429
SNPshot	rs587779429
SNPdbe	rs587779429
MSV3d	rs587779429
GWAS Ctlg	rs587779429

Max Magnitude

6.5

ClinVar
Risk	rs587779429(C;C)
Alt	rs587779429(C;C)
Reference	Rs587779429(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.189863446T>C
CLNSRC
CLNACC	RCV000087352.1,