rs587779478

Orientation

plus

Stabilized

plus

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

Make rs587779478(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188991014

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779478
dbSNP (classic)	rs587779478
ClinGen	rs587779478
ebi	rs587779478
HLI	rs587779478
Exac	rs587779478
Gnomad	rs587779478
Varsome	rs587779478
LitVar	rs587779478
Map	rs587779478
PheGenI	rs587779478
Biobank	rs587779478
1000 genomes	rs587779478
hgdp	rs587779478
ensembl	rs587779478
geneview	rs587779478
scholar	rs587779478
google	rs587779478
pharmgkb	rs587779478
gwascentral	rs587779478
openSNP	rs587779478
23andMe	rs587779478
SNPshot	rs587779478
SNPdbe	rs587779478
MSV3d	rs587779478
GWAS Ctlg	rs587779478

Max Magnitude

6.5

ClinVar
Risk	rs587779478(A;A)
Alt	rs587779478(A;A)
Reference	Rs587779478(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.189855740G>A
CLNSRC
CLNACC	RCV000087410.1,