rs587779441

Orientation

plus

Stabilized

plus

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

Make rs587779441(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188989415

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779441
dbSNP (classic)	rs587779441
ClinGen	rs587779441
ebi	rs587779441
HLI	rs587779441
Exac	rs587779441
Gnomad	rs587779441
Varsome	rs587779441
LitVar	rs587779441
Map	rs587779441
PheGenI	rs587779441
Biobank	rs587779441
1000 genomes	rs587779441
hgdp	rs587779441
ensembl	rs587779441
geneview	rs587779441
scholar	rs587779441
google	rs587779441
pharmgkb	rs587779441
gwascentral	rs587779441
openSNP	rs587779441
23andMe	rs587779441
SNPshot	rs587779441
SNPdbe	rs587779441
MSV3d	rs587779441
GWAS Ctlg	rs587779441

Max Magnitude

6.5

ClinVar
Risk	rs587779441(A;A) rs587779441(C;C)
Alt	rs587779441(A;A) rs587779441(C;C)
Reference	Rs587779441(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.189854141G>A; NC_000002.11:g.189854141G>C
CLNSRC
CLNACC	RCV000087598.1, RCV000087365.1,