rs112371422

Orientation

plus

Stabilized

plus

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

Make rs112371422(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

189007569

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs112371422
dbSNP (classic)	rs112371422
ClinGen	rs112371422
ebi	rs112371422
HLI	rs112371422
Exac	rs112371422
Gnomad	rs112371422
Varsome	rs112371422
LitVar	rs112371422
Map	rs112371422
PheGenI	rs112371422
Biobank	rs112371422
1000 genomes	rs112371422
hgdp	rs112371422
ensembl	rs112371422
geneview	rs112371422
scholar	rs112371422
google	rs112371422
pharmgkb	rs112371422
gwascentral	rs112371422
openSNP	rs112371422
23andMe	rs112371422
SNPshot	rs112371422
SNPdbe	rs112371422
MSV3d	rs112371422
GWAS Ctlg	rs112371422

Max Magnitude

6.5

ClinVar
Risk	rs112371422(G;G) rs112371422(T;T)
Alt	rs112371422(G;G) rs112371422(T;T)
Reference	Rs112371422(C;C)
Significance	Pathogenic
Disease	not specified Thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	not specified Thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189872295C>G; NC_000002.11:g.189872295C>T
CLNSRC	ClinVar
CLNACC	RCV000181110.3, RCV000248101.1, RCV000087665.1,