rs587779632

Orientation

plus

Stabilized

plus

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

Make rs587779632(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188995693

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs587779632
dbSNP (classic)	rs587779632
ClinGen	rs587779632
ebi	rs587779632
HLI	rs587779632
Exac	rs587779632
Gnomad	rs587779632
Varsome	rs587779632
LitVar	rs587779632
Map	rs587779632
PheGenI	rs587779632
Biobank	rs587779632
1000 genomes	rs587779632
hgdp	rs587779632
ensembl	rs587779632
geneview	rs587779632
scholar	rs587779632
google	rs587779632
pharmgkb	rs587779632
gwascentral	rs587779632
openSNP	rs587779632
23andMe	rs587779632
SNPshot	rs587779632
SNPdbe	rs587779632
MSV3d	rs587779632
GWAS Ctlg	rs587779632

Max Magnitude

6.5

ClinVar
Risk	rs587779632(T;T)
Alt	rs587779632(T;T)
Reference	Rs587779632(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.189860419G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087601.1,