rs193922176

Orientation

plus

Stabilized

plus

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

Make rs193922176(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188996426

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs193922176
dbSNP (classic)	rs193922176
ClinGen	rs193922176
ebi	rs193922176
HLI	rs193922176
Exac	rs193922176
Gnomad	rs193922176
Varsome	rs193922176
LitVar	rs193922176
Map	rs193922176
PheGenI	rs193922176
Biobank	rs193922176
1000 genomes	rs193922176
hgdp	rs193922176
ensembl	rs193922176
geneview	rs193922176
scholar	rs193922176
google	rs193922176
pharmgkb	rs193922176
gwascentral	rs193922176
openSNP	rs193922176
23andMe	rs193922176
SNPshot	rs193922176
SNPdbe	rs193922176
MSV3d	rs193922176
GWAS Ctlg	rs193922176

Max Magnitude

6.5

ClinVar
Risk	rs193922176(C;C)
Alt	rs193922176(C;C)
Reference	Rs193922176(G;G)
Significance	Probable-Pathogenic
Disease	Familial aortopathy
Variation	info
Gene	COL3A1
CLNDBN	Familial aortopathy
Reversed	0
HGVS	NC_000002.11:g.189861152G>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029618.1,