rs587779446

Orientation

plus

Stabilized

plus

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

Make rs587779446(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188988108

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779446
dbSNP (classic)	rs587779446
ClinGen	rs587779446
ebi	rs587779446
HLI	rs587779446
Exac	rs587779446
Gnomad	rs587779446
Varsome	rs587779446
LitVar	rs587779446
Map	rs587779446
PheGenI	rs587779446
Biobank	rs587779446
1000 genomes	rs587779446
hgdp	rs587779446
ensembl	rs587779446
geneview	rs587779446
scholar	rs587779446
google	rs587779446
pharmgkb	rs587779446
gwascentral	rs587779446
openSNP	rs587779446
23andMe	rs587779446
SNPshot	rs587779446
SNPdbe	rs587779446
MSV3d	rs587779446
GWAS Ctlg	rs587779446

Max Magnitude

6.5

ClinVar
Risk	rs587779446(A;A)
Alt	rs587779446(A;A)
Reference	Rs587779446(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.189852834G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087372.1,