rs587779677

Orientation

plus

Stabilized

plus

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

Make rs587779677(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188974519

Gene	COL3A1, LOC105373791

is a	snp
is	mentioned by
dbSNP	rs587779677
dbSNP (classic)	rs587779677
ClinGen	rs587779677
ebi	rs587779677
HLI	rs587779677
Exac	rs587779677
Gnomad	rs587779677
Varsome	rs587779677
LitVar	rs587779677
Map	rs587779677
PheGenI	rs587779677
Biobank	rs587779677
1000 genomes	rs587779677
hgdp	rs587779677
ensembl	rs587779677
geneview	rs587779677
scholar	rs587779677
google	rs587779677
pharmgkb	rs587779677
gwascentral	rs587779677
openSNP	rs587779677
23andMe	rs587779677
SNPshot	rs587779677
SNPdbe	rs587779677
MSV3d	rs587779677
GWAS Ctlg	rs587779677

Max Magnitude

6.5

ClinVar
Risk	rs587779677(A;A)
Alt	rs587779677(A;A)
Reference	Rs587779677(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.189839245G>A
CLNSRC
CLNACC	RCV000087673.1,