rs587779442

Orientation

plus

Stabilized

plus

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

Make rs587779442(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999340

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779442
dbSNP (classic)	rs587779442
ClinGen	rs587779442
ebi	rs587779442
HLI	rs587779442
Exac	rs587779442
Gnomad	rs587779442
Varsome	rs587779442
LitVar	rs587779442
Map	rs587779442
PheGenI	rs587779442
Biobank	rs587779442
1000 genomes	rs587779442
hgdp	rs587779442
ensembl	rs587779442
geneview	rs587779442
scholar	rs587779442
google	rs587779442
pharmgkb	rs587779442
gwascentral	rs587779442
openSNP	rs587779442
23andMe	rs587779442
SNPshot	rs587779442
SNPdbe	rs587779442
MSV3d	rs587779442
GWAS Ctlg	rs587779442

Max Magnitude

6.5

ClinVar
Risk	rs587779442(C;C)
Alt	rs587779442(C;C)
Reference	Rs587779442(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189864066G>C
CLNSRC
CLNACC	RCV000087366.1,