rs587779644

Orientation

plus

Stabilized

plus

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

Make rs587779644(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188991032

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779644
dbSNP (classic)	rs587779644
ClinGen	rs587779644
ebi	rs587779644
HLI	rs587779644
Exac	rs587779644
Gnomad	rs587779644
Varsome	rs587779644
LitVar	rs587779644
Map	rs587779644
PheGenI	rs587779644
Biobank	rs587779644
1000 genomes	rs587779644
hgdp	rs587779644
ensembl	rs587779644
geneview	rs587779644
scholar	rs587779644
google	rs587779644
pharmgkb	rs587779644
gwascentral	rs587779644
openSNP	rs587779644
23andMe	rs587779644
SNPshot	rs587779644
SNPdbe	rs587779644
MSV3d	rs587779644
GWAS Ctlg	rs587779644

Max Magnitude

6.5

ClinVar
Risk	rs587779644(A;A)
Alt	rs587779644(A;A)
Reference	Rs587779644(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.189855758G>A
CLNSRC
CLNACC	RCV000087616.1,