rs587779422

Orientation

plus

Stabilized

plus

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

Make rs587779422(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188991727

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779422
dbSNP (classic)	rs587779422
ClinGen	rs587779422
ebi	rs587779422
HLI	rs587779422
Exac	rs587779422
Gnomad	rs587779422
Varsome	rs587779422
LitVar	rs587779422
Map	rs587779422
PheGenI	rs587779422
Biobank	rs587779422
1000 genomes	rs587779422
hgdp	rs587779422
ensembl	rs587779422
geneview	rs587779422
scholar	rs587779422
google	rs587779422
pharmgkb	rs587779422
gwascentral	rs587779422
openSNP	rs587779422
23andMe	rs587779422
SNPshot	rs587779422
SNPdbe	rs587779422
MSV3d	rs587779422
GWAS Ctlg	rs587779422

Max Magnitude

6.5

ClinVar
Risk	rs587779422(A;A)
Alt	rs587779422(A;A)
Reference	Rs587779422(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.189856453G>A
CLNSRC
CLNACC	RCV000087345.1,