rs587779692

Orientation

plus

Stabilized

plus

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

Make rs587779692(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188994297

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs587779692
dbSNP (classic)	rs587779692
ClinGen	rs587779692
ebi	rs587779692
HLI	rs587779692
Exac	rs587779692
Gnomad	rs587779692
Varsome	rs587779692
LitVar	rs587779692
Map	rs587779692
PheGenI	rs587779692
Biobank	rs587779692
1000 genomes	rs587779692
hgdp	rs587779692
ensembl	rs587779692
geneview	rs587779692
scholar	rs587779692
google	rs587779692
pharmgkb	rs587779692
gwascentral	rs587779692
openSNP	rs587779692
23andMe	rs587779692
SNPshot	rs587779692
SNPdbe	rs587779692
MSV3d	rs587779692
GWAS Ctlg	rs587779692

Max Magnitude

6.5

ClinVar
Risk	rs587779692(A;A)
Alt	rs587779692(A;A)
Reference	Rs587779692(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.189859023G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087690.1,