rs587779445

Orientation

plus

Stabilized

plus

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

Make rs587779445(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189007591

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779445
dbSNP (classic)	rs587779445
ClinGen	rs587779445
ebi	rs587779445
HLI	rs587779445
Exac	rs587779445
Gnomad	rs587779445
Varsome	rs587779445
LitVar	rs587779445
Map	rs587779445
PheGenI	rs587779445
Biobank	rs587779445
1000 genomes	rs587779445
hgdp	rs587779445
ensembl	rs587779445
geneview	rs587779445
scholar	rs587779445
google	rs587779445
pharmgkb	rs587779445
gwascentral	rs587779445
openSNP	rs587779445
23andMe	rs587779445
SNPshot	rs587779445
SNPdbe	rs587779445
MSV3d	rs587779445
GWAS Ctlg	rs587779445

Max Magnitude

6.5

ClinVar
Risk	rs587779445(T;T)
Alt	rs587779445(T;T)
Reference	Rs587779445(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.189872317G>T
CLNSRC
CLNACC	RCV000087370.1,