rs587779714

Orientation

plus

Stabilized

plus

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

Make rs587779714(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188988091

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779714
dbSNP (classic)	rs587779714
ClinGen	rs587779714
ebi	rs587779714
HLI	rs587779714
Exac	rs587779714
Gnomad	rs587779714
Varsome	rs587779714
LitVar	rs587779714
Map	rs587779714
PheGenI	rs587779714
Biobank	rs587779714
1000 genomes	rs587779714
hgdp	rs587779714
ensembl	rs587779714
geneview	rs587779714
scholar	rs587779714
google	rs587779714
pharmgkb	rs587779714
gwascentral	rs587779714
openSNP	rs587779714
23andMe	rs587779714
SNPshot	rs587779714
SNPdbe	rs587779714
MSV3d	rs587779714
GWAS Ctlg	rs587779714

Max Magnitude

6.5

ClinVar
Risk	rs587779714(A;A)
Alt	rs587779714(A;A)
Reference	Rs587779714(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.189852817G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087722.1,