rs587779686

Orientation

plus

Stabilized

plus

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

Make rs587779686(-;-)

Make rs587779686(GGA;GGA)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188993415

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779686
dbSNP (classic)	rs587779686
ClinGen	rs587779686
ebi	rs587779686
HLI	rs587779686
Exac	rs587779686
Gnomad	rs587779686
Varsome	rs587779686
LitVar	rs587779686
Map	rs587779686
PheGenI	rs587779686
Biobank	rs587779686
1000 genomes	rs587779686
hgdp	rs587779686
ensembl	rs587779686
geneview	rs587779686
scholar	rs587779686
google	rs587779686
pharmgkb	rs587779686
gwascentral	rs587779686
openSNP	rs587779686
23andMe	rs587779686
SNPshot	rs587779686
SNPdbe	rs587779686
MSV3d	rs587779686
GWAS Ctlg	rs587779686

Max Magnitude

6.5

ClinVar
Risk	rs587779686(-;-)
Alt	rs587779686(-;-)
Reference	Rs587779686(GAG;GAG)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189858141_189858143delGGA
CLNSRC
CLNACC	RCV000087683.1,