rs587779474

Orientation

plus

Stabilized

plus

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

Make rs587779474(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999330

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779474
dbSNP (classic)	rs587779474
ClinGen	rs587779474
ebi	rs587779474
HLI	rs587779474
Exac	rs587779474
Gnomad	rs587779474
Varsome	rs587779474
LitVar	rs587779474
Map	rs587779474
PheGenI	rs587779474
Biobank	rs587779474
1000 genomes	rs587779474
hgdp	rs587779474
ensembl	rs587779474
geneview	rs587779474
scholar	rs587779474
google	rs587779474
pharmgkb	rs587779474
gwascentral	rs587779474
openSNP	rs587779474
23andMe	rs587779474
SNPshot	rs587779474
SNPdbe	rs587779474
MSV3d	rs587779474
GWAS Ctlg	rs587779474

Max Magnitude

6.5

ClinVar
Risk	rs587779474(A;A)
Alt	rs587779474(A;A)
Reference	Rs587779474(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.189864056G>A
CLNSRC
CLNACC	RCV000087405.1,