rs587779695

Orientation

plus

Stabilized

plus

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

Make rs587779695(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188999479

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779695
dbSNP (classic)	rs587779695
ClinGen	rs587779695
ebi	rs587779695
HLI	rs587779695
Exac	rs587779695
Gnomad	rs587779695
Varsome	rs587779695
LitVar	rs587779695
Map	rs587779695
PheGenI	rs587779695
Biobank	rs587779695
1000 genomes	rs587779695
hgdp	rs587779695
ensembl	rs587779695
geneview	rs587779695
scholar	rs587779695
google	rs587779695
pharmgkb	rs587779695
gwascentral	rs587779695
openSNP	rs587779695
23andMe	rs587779695
SNPshot	rs587779695
SNPdbe	rs587779695
MSV3d	rs587779695
GWAS Ctlg	rs587779695

Max Magnitude

6.5

ClinVar
Risk	rs587779695(A;A)
Alt	rs587779695(A;A)
Reference	Rs587779695(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.189864205G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087693.1,