rs587779532

Orientation

plus

Stabilized

plus

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

Make rs587779532(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189005463

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779532
dbSNP (classic)	rs587779532
ClinGen	rs587779532
ebi	rs587779532
HLI	rs587779532
Exac	rs587779532
Gnomad	rs587779532
Varsome	rs587779532
LitVar	rs587779532
Map	rs587779532
PheGenI	rs587779532
Biobank	rs587779532
1000 genomes	rs587779532
hgdp	rs587779532
ensembl	rs587779532
geneview	rs587779532
scholar	rs587779532
google	rs587779532
pharmgkb	rs587779532
gwascentral	rs587779532
openSNP	rs587779532
23andMe	rs587779532
SNPshot	rs587779532
SNPdbe	rs587779532
MSV3d	rs587779532
GWAS Ctlg	rs587779532

Max Magnitude

6.5

ClinVar
Risk	rs587779532(C;C)
Alt	rs587779532(C;C)
Reference	Rs587779532(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.189870189T>C
CLNSRC
CLNACC	RCV000087472.1,