rs869312034

Orientation

plus

Stabilized

plus

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

Make rs869312034(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

189006260

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs869312034
dbSNP (classic)	rs869312034
ClinGen	rs869312034
ebi	rs869312034
HLI	rs869312034
Exac	rs869312034
Gnomad	rs869312034
Varsome	rs869312034
LitVar	rs869312034
Map	rs869312034
PheGenI	rs869312034
Biobank	rs869312034
1000 genomes	rs869312034
hgdp	rs869312034
ensembl	rs869312034
geneview	rs869312034
scholar	rs869312034
google	rs869312034
pharmgkb	rs869312034
gwascentral	rs869312034
openSNP	rs869312034
23andMe	rs869312034
SNPshot	rs869312034
SNPdbe	rs869312034
MSV3d	rs869312034
GWAS Ctlg	rs869312034

Max Magnitude

6.5

aka c.3093+1G>A

reported in ClinVar as pathogenic for Ehlers-Danlos syndrome, type 4

ClinVar
Risk	rs869312034(A;A)
Alt	rs869312034(A;A)
Reference	Rs869312034(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.189870986G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018744.28,