rs587779444

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.5	Ehlers-Danlos Syndrome (EDS) type 4
(C;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 rs587779444(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189007939

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779444
dbSNP (classic)	rs587779444
ClinGen	rs587779444
ebi	rs587779444
HLI	rs587779444
Exac	rs587779444
Gnomad	rs587779444
Varsome	rs587779444
LitVar	rs587779444
Map	rs587779444
PheGenI	rs587779444
Biobank	rs587779444
1000 genomes	rs587779444
hgdp	rs587779444
ensembl	rs587779444
geneview	rs587779444
scholar	rs587779444
google	rs587779444
pharmgkb	rs587779444
gwascentral	rs587779444
openSNP	rs587779444
23andMe	rs587779444
SNPshot	rs587779444
SNPdbe	rs587779444
MSV3d	rs587779444
GWAS Ctlg	rs587779444

Max Magnitude

6.5

ClinVar
Risk	rs587779444(A;A) rs587779444(C;C) rs587779444(T;T)
Alt	rs587779444(A;A) rs587779444(C;C) rs587779444(T;T)
Reference	Rs587779444(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome not provided
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4 not provided
Reversed	0
HGVS	NC_000002.11:g.189872665G>A; NC_000002.11:g.189872665G>C; NC_000002.11:g.189872665G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087369.1, RCV000442138.1, RCV000087618.1, RCV000087719.1,