rs587779653

Orientation

plus

Stabilized

plus

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

Make rs587779653(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189003043

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779653
dbSNP (classic)	rs587779653
ClinGen	rs587779653
ebi	rs587779653
HLI	rs587779653
Exac	rs587779653
Gnomad	rs587779653
Varsome	rs587779653
LitVar	rs587779653
Map	rs587779653
PheGenI	rs587779653
Biobank	rs587779653
1000 genomes	rs587779653
hgdp	rs587779653
ensembl	rs587779653
geneview	rs587779653
scholar	rs587779653
google	rs587779653
pharmgkb	rs587779653
gwascentral	rs587779653
openSNP	rs587779653
23andMe	rs587779653
SNPshot	rs587779653
SNPdbe	rs587779653
MSV3d	rs587779653
GWAS Ctlg	rs587779653

Max Magnitude

6.5

ClinVar
Risk	rs587779653(C;C)
Alt	rs587779653(C;C)
Reference	Rs587779653(-;-)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189867769dupC
CLNSRC
CLNACC	RCV000087634.1,