rs587779504

Orientation

plus

Stabilized

plus

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

Make rs587779504(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189008960

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779504
dbSNP (classic)	rs587779504
ClinGen	rs587779504
ebi	rs587779504
HLI	rs587779504
Exac	rs587779504
Gnomad	rs587779504
Varsome	rs587779504
LitVar	rs587779504
Map	rs587779504
PheGenI	rs587779504
Biobank	rs587779504
1000 genomes	rs587779504
hgdp	rs587779504
ensembl	rs587779504
geneview	rs587779504
scholar	rs587779504
google	rs587779504
pharmgkb	rs587779504
gwascentral	rs587779504
openSNP	rs587779504
23andMe	rs587779504
SNPshot	rs587779504
SNPdbe	rs587779504
MSV3d	rs587779504
GWAS Ctlg	rs587779504

Max Magnitude

6.5

ClinVar
Risk	rs587779504(A;A)
Alt	rs587779504(A;A)
Reference	Rs587779504(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.189873686G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087439.1,