rs587779546

Orientation

plus

Stabilized

plus

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

Make rs587779546(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189007883

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779546
dbSNP (classic)	rs587779546
ClinGen	rs587779546
ebi	rs587779546
HLI	rs587779546
Exac	rs587779546
Gnomad	rs587779546
Varsome	rs587779546
LitVar	rs587779546
Map	rs587779546
PheGenI	rs587779546
Biobank	rs587779546
1000 genomes	rs587779546
hgdp	rs587779546
ensembl	rs587779546
geneview	rs587779546
scholar	rs587779546
google	rs587779546
pharmgkb	rs587779546
gwascentral	rs587779546
openSNP	rs587779546
23andMe	rs587779546
SNPshot	rs587779546
SNPdbe	rs587779546
MSV3d	rs587779546
GWAS Ctlg	rs587779546

Max Magnitude

6.5

ClinVar
Risk	rs587779546(C;C)
Alt	rs587779546(C;C)
Reference	Rs587779546(A;A)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189872609A>C
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087487.1,