rs587779520

Orientation

plus

Stabilized

plus

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

Make rs587779520(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188994037

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs587779520
dbSNP (classic)	rs587779520
ClinGen	rs587779520
ebi	rs587779520
HLI	rs587779520
Exac	rs587779520
Gnomad	rs587779520
Varsome	rs587779520
LitVar	rs587779520
Map	rs587779520
PheGenI	rs587779520
Biobank	rs587779520
1000 genomes	rs587779520
hgdp	rs587779520
ensembl	rs587779520
geneview	rs587779520
scholar	rs587779520
google	rs587779520
pharmgkb	rs587779520
gwascentral	rs587779520
openSNP	rs587779520
23andMe	rs587779520
SNPshot	rs587779520
SNPdbe	rs587779520
MSV3d	rs587779520
GWAS Ctlg	rs587779520

Max Magnitude

6.5

ClinVar
Risk	rs587779520(C;C)
Alt	rs587779520(C;C)
Reference	Rs587779520(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1 MIR3606
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189858763G>C
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087457.1,