rs587779679

Orientation

plus

Stabilized

plus

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

Make rs587779679(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188996162

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs587779679
dbSNP (classic)	rs587779679
ClinGen	rs587779679
ebi	rs587779679
HLI	rs587779679
Exac	rs587779679
Gnomad	rs587779679
Varsome	rs587779679
LitVar	rs587779679
Map	rs587779679
PheGenI	rs587779679
Biobank	rs587779679
1000 genomes	rs587779679
hgdp	rs587779679
ensembl	rs587779679
geneview	rs587779679
scholar	rs587779679
google	rs587779679
pharmgkb	rs587779679
gwascentral	rs587779679
openSNP	rs587779679
23andMe	rs587779679
SNPshot	rs587779679
SNPdbe	rs587779679
MSV3d	rs587779679
GWAS Ctlg	rs587779679

Max Magnitude

6.5

ClinVar
Risk	rs587779679(A;A)
Alt	rs587779679(A;A)
Reference	Rs587779679(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.189860888G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087675.1,