rs587779424

Orientation

plus

Stabilized

plus

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

Make rs587779424(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004144

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779424
dbSNP (classic)	rs587779424
ClinGen	rs587779424
ebi	rs587779424
HLI	rs587779424
Exac	rs587779424
Gnomad	rs587779424
Varsome	rs587779424
LitVar	rs587779424
Map	rs587779424
PheGenI	rs587779424
Biobank	rs587779424
1000 genomes	rs587779424
hgdp	rs587779424
ensembl	rs587779424
geneview	rs587779424
scholar	rs587779424
google	rs587779424
pharmgkb	rs587779424
gwascentral	rs587779424
openSNP	rs587779424
23andMe	rs587779424
SNPshot	rs587779424
SNPdbe	rs587779424
MSV3d	rs587779424
GWAS Ctlg	rs587779424

Max Magnitude

6.5

ClinVar
Risk	rs587779424(A;A)
Alt	rs587779424(A;A)
Reference	Rs587779424(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.189868870G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087347.1,