rs587779443

Orientation

plus

Stabilized

plus

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

Make rs587779443(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188993460

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779443
dbSNP (classic)	rs587779443
ClinGen	rs587779443
ebi	rs587779443
HLI	rs587779443
Exac	rs587779443
Gnomad	rs587779443
Varsome	rs587779443
LitVar	rs587779443
Map	rs587779443
PheGenI	rs587779443
Biobank	rs587779443
1000 genomes	rs587779443
hgdp	rs587779443
ensembl	rs587779443
geneview	rs587779443
scholar	rs587779443
google	rs587779443
pharmgkb	rs587779443
gwascentral	rs587779443
openSNP	rs587779443
23andMe	rs587779443
SNPshot	rs587779443
SNPdbe	rs587779443
MSV3d	rs587779443
GWAS Ctlg	rs587779443

Max Magnitude

6.5

ClinVar
Risk	rs587779443(A;A) rs587779443(T;T)
Alt	rs587779443(A;A) rs587779443(T;T)
Reference	Rs587779443(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.189858186G>A; NC_000002.11:g.189858186G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018743.28, RCV000087596.1,