rs587779554

Orientation

plus

Stabilized

plus

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

Make rs587779554(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189006955

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779554
dbSNP (classic)	rs587779554
ClinGen	rs587779554
ebi	rs587779554
HLI	rs587779554
Exac	rs587779554
Gnomad	rs587779554
Varsome	rs587779554
LitVar	rs587779554
Map	rs587779554
PheGenI	rs587779554
Biobank	rs587779554
1000 genomes	rs587779554
hgdp	rs587779554
ensembl	rs587779554
geneview	rs587779554
scholar	rs587779554
google	rs587779554
pharmgkb	rs587779554
gwascentral	rs587779554
openSNP	rs587779554
23andMe	rs587779554
SNPshot	rs587779554
SNPdbe	rs587779554
MSV3d	rs587779554
GWAS Ctlg	rs587779554

Max Magnitude

6.5

ClinVar
Risk	rs587779554(A;A)
Alt	rs587779554(A;A)
Reference	Rs587779554(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.189871681G>A
CLNSRC
CLNACC	RCV000087495.1,