rs587779438

Orientation

plus

Stabilized

plus

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

Make rs587779438(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004257

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779438
dbSNP (classic)	rs587779438
ClinGen	rs587779438
ebi	rs587779438
HLI	rs587779438
Exac	rs587779438
Gnomad	rs587779438
Varsome	rs587779438
LitVar	rs587779438
Map	rs587779438
PheGenI	rs587779438
Biobank	rs587779438
1000 genomes	rs587779438
hgdp	rs587779438
ensembl	rs587779438
geneview	rs587779438
scholar	rs587779438
google	rs587779438
pharmgkb	rs587779438
gwascentral	rs587779438
openSNP	rs587779438
23andMe	rs587779438
SNPshot	rs587779438
SNPdbe	rs587779438
MSV3d	rs587779438
GWAS Ctlg	rs587779438

Max Magnitude

6.5

ClinVar
Risk	rs587779438(A;A)
Alt	rs587779438(A;A)
Reference	Rs587779438(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.189868983G>A
CLNSRC
CLNACC	RCV000087362.1,