rs587779544

Orientation

plus

Stabilized

plus

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

Make rs587779544(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188993452

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779544
dbSNP (classic)	rs587779544
ClinGen	rs587779544
ebi	rs587779544
HLI	rs587779544
Exac	rs587779544
Gnomad	rs587779544
Varsome	rs587779544
LitVar	rs587779544
Map	rs587779544
PheGenI	rs587779544
Biobank	rs587779544
1000 genomes	rs587779544
hgdp	rs587779544
ensembl	rs587779544
geneview	rs587779544
scholar	rs587779544
google	rs587779544
pharmgkb	rs587779544
gwascentral	rs587779544
openSNP	rs587779544
23andMe	rs587779544
SNPshot	rs587779544
SNPdbe	rs587779544
MSV3d	rs587779544
GWAS Ctlg	rs587779544

Max Magnitude

6.5

aka c.1142G>A (p.Gly381Asp or G381D)

ClinVar
Risk	rs587779544(A;A)
Alt	rs587779544(A;A)
Reference	Rs587779544(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.189858178G>A
CLNSRC
CLNACC	RCV000087485.1,