rs587779421

Orientation

plus

Stabilized

plus

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

Make rs587779421(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188997746

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779421
dbSNP (classic)	rs587779421
ClinGen	rs587779421
ebi	rs587779421
HLI	rs587779421
Exac	rs587779421
Gnomad	rs587779421
Varsome	rs587779421
LitVar	rs587779421
Map	rs587779421
PheGenI	rs587779421
Biobank	rs587779421
1000 genomes	rs587779421
hgdp	rs587779421
ensembl	rs587779421
geneview	rs587779421
scholar	rs587779421
google	rs587779421
pharmgkb	rs587779421
gwascentral	rs587779421
openSNP	rs587779421
23andMe	rs587779421
SNPshot	rs587779421
SNPdbe	rs587779421
MSV3d	rs587779421
GWAS Ctlg	rs587779421

Max Magnitude

6.5

ClinVar
Risk	rs587779421(A;A)
Alt	rs587779421(A;A)
Reference	Rs587779421(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.189862472G>A
CLNSRC
CLNACC	RCV000087344.1,