rs587779431

Orientation

plus

Stabilized

plus

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

Make rs587779431(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189008108

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779431
dbSNP (classic)	rs587779431
ClinGen	rs587779431
ebi	rs587779431
HLI	rs587779431
Exac	rs587779431
Gnomad	rs587779431
Varsome	rs587779431
LitVar	rs587779431
Map	rs587779431
PheGenI	rs587779431
Biobank	rs587779431
1000 genomes	rs587779431
hgdp	rs587779431
ensembl	rs587779431
geneview	rs587779431
scholar	rs587779431
google	rs587779431
pharmgkb	rs587779431
gwascentral	rs587779431
openSNP	rs587779431
23andMe	rs587779431
SNPshot	rs587779431
SNPdbe	rs587779431
MSV3d	rs587779431
GWAS Ctlg	rs587779431

Max Magnitude

6.5

ClinVar
Risk	rs587779431(A;A) rs587779431(T;T)
Alt	rs587779431(A;A) rs587779431(T;T)
Reference	Rs587779431(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.189872834G>A; NC_000002.11:g.189872834G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087355.1, RCV000087401.1,