rs587779635

Orientation

plus

Stabilized

plus

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

Make rs587779635(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188990344

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779635
dbSNP (classic)	rs587779635
ClinGen	rs587779635
ebi	rs587779635
HLI	rs587779635
Exac	rs587779635
Gnomad	rs587779635
Varsome	rs587779635
LitVar	rs587779635
Map	rs587779635
PheGenI	rs587779635
Biobank	rs587779635
1000 genomes	rs587779635
hgdp	rs587779635
ensembl	rs587779635
geneview	rs587779635
scholar	rs587779635
google	rs587779635
pharmgkb	rs587779635
gwascentral	rs587779635
openSNP	rs587779635
23andMe	rs587779635
SNPshot	rs587779635
SNPdbe	rs587779635
MSV3d	rs587779635
GWAS Ctlg	rs587779635

Max Magnitude

6.5

ClinVar
Risk	rs587779635(A;A)
Alt	rs587779635(A;A)
Reference	Rs587779635(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.189855070G>A
CLNSRC
CLNACC	RCV000087605.1,