rs587779617

Orientation

plus

Stabilized

plus

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

Make rs587779617(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004256

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779617
dbSNP (classic)	rs587779617
ClinGen	rs587779617
ebi	rs587779617
HLI	rs587779617
Exac	rs587779617
Gnomad	rs587779617
Varsome	rs587779617
LitVar	rs587779617
Map	rs587779617
PheGenI	rs587779617
Biobank	rs587779617
1000 genomes	rs587779617
hgdp	rs587779617
ensembl	rs587779617
geneview	rs587779617
scholar	rs587779617
google	rs587779617
pharmgkb	rs587779617
gwascentral	rs587779617
openSNP	rs587779617
23andMe	rs587779617
SNPshot	rs587779617
SNPdbe	rs587779617
MSV3d	rs587779617
GWAS Ctlg	rs587779617

Max Magnitude

6.5

ClinVar
Risk	rs587779617(A;A)
Alt	rs587779617(A;A)
Reference	Rs587779617(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.189868982G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087575.1,