rs587779522

Orientation

plus

Stabilized

plus

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

Make rs587779522(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188997736

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779522
dbSNP (classic)	rs587779522
ClinGen	rs587779522
ebi	rs587779522
HLI	rs587779522
Exac	rs587779522
Gnomad	rs587779522
Varsome	rs587779522
LitVar	rs587779522
Map	rs587779522
PheGenI	rs587779522
Biobank	rs587779522
1000 genomes	rs587779522
hgdp	rs587779522
ensembl	rs587779522
geneview	rs587779522
scholar	rs587779522
google	rs587779522
pharmgkb	rs587779522
gwascentral	rs587779522
openSNP	rs587779522
23andMe	rs587779522
SNPshot	rs587779522
SNPdbe	rs587779522
MSV3d	rs587779522
GWAS Ctlg	rs587779522

Max Magnitude

6.5

ClinVar
Risk	rs587779522(C;C)
Alt	rs587779522(C;C)
Reference	Rs587779522(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.189862462G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087459.1,