rs587779629

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 rs587779629(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188990133

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779629
dbSNP (classic)	rs587779629
ClinGen	rs587779629
ebi	rs587779629
HLI	rs587779629
Exac	rs587779629
Gnomad	rs587779629
Varsome	rs587779629
LitVar	rs587779629
Map	rs587779629
PheGenI	rs587779629
Biobank	rs587779629
1000 genomes	rs587779629
hgdp	rs587779629
ensembl	rs587779629
geneview	rs587779629
scholar	rs587779629
google	rs587779629
pharmgkb	rs587779629
gwascentral	rs587779629
openSNP	rs587779629
23andMe	rs587779629
SNPshot	rs587779629
SNPdbe	rs587779629
MSV3d	rs587779629
GWAS Ctlg	rs587779629

Max Magnitude

6.5

ClinVar
Risk	rs587779629(A;A) rs587779629(T;T)
Alt	rs587779629(A;A) rs587779629(T;T)
Reference	Rs587779629(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.189854859G>A; NC_000002.11:g.189854859G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087666.1, RCV000087594.1,