rs587779645

Orientation

plus

Stabilized

plus

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

Make rs587779645(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189003762

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779645
dbSNP (classic)	rs587779645
ClinGen	rs587779645
ebi	rs587779645
HLI	rs587779645
Exac	rs587779645
Gnomad	rs587779645
Varsome	rs587779645
LitVar	rs587779645
Map	rs587779645
PheGenI	rs587779645
Biobank	rs587779645
1000 genomes	rs587779645
hgdp	rs587779645
ensembl	rs587779645
geneview	rs587779645
scholar	rs587779645
google	rs587779645
pharmgkb	rs587779645
gwascentral	rs587779645
openSNP	rs587779645
23andMe	rs587779645
SNPshot	rs587779645
SNPdbe	rs587779645
MSV3d	rs587779645
GWAS Ctlg	rs587779645

Max Magnitude

6.5

ClinVar
Risk	rs587779645(T;T)
Alt	rs587779645(T;T)
Reference	Rs587779645(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.189868488G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087617.1,