rs115912456
×
Entrez Id: 1462
Gene Symbol: VCAN
VCAN
Body Fat Distribution
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.
30664634 2019
rs34580448
×
Entrez Id: 1462
Gene Symbol: VCAN
VCAN
Lean body mass
0.700
GeneticVariation
GWASCAT
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
30593698 2019
rs2287926
×
Entrez Id: 1462
Gene Symbol: VCAN
VCAN
Lean body mass
0.700
GeneticVariation
GWASCAT
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
28724990 2017
rs310518
VCAN;LOC107986431
Laryngeal Squamous Cell Carcinoma
0.700
GeneticVariation
GWASCAT
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
25194280 2014
rs397515437
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
A
0.700
CausalMutation
CLINVAR
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.
22739342 2013
rs80356553
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
A
0.700
CausalMutation
CLINVAR
De novo splice mutation in the versican gene in a family with Wagner syndrome.
23571384 2013
rs80356554
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
C
0.700
CausalMutation
CLINVAR
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.
22739342 2013
rs80356554
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
T
0.700
CausalMutation
CLINVAR
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
23462753 2013
rs864309744
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
A
0.700
CausalMutation
CLINVAR
A family with Wagner syndrome with uveitis and a new versican mutation.
24174867 2013
rs10514258
VCAN;VCAN-AS1
Polycystic Ovary Syndrome
0.700
GeneticVariation
GWASDB
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
21151128 2011
rs80356555
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
G
0.700
CausalMutation
CLINVAR
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
21738396 2011
rs80356555
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
T
0.700
CausalMutation
CLINVAR
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
21738396 2011
rs80356553
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
T
0.700
CausalMutation
CLINVAR
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.
19901218 2009
rs80356553
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
T
0.700
CausalMutation
CLINVAR
Clinical characterisation and molecular analysis of Wagner syndrome.
17035272 2007
rs80356553
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
T
0.700
CausalMutation
CLINVAR
Identification of the genetic defect in the original Wagner syndrome family.
16636652 2006
rs80356554
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
A
0.700
CausalMutation
CLINVAR
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
16877430 2006
rs80356556
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
A
0.700
CausalMutation
CLINVAR
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
16877430 2006
rs80356556
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
C
0.700
CausalMutation
CLINVAR
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
16877430 2006
rs80356555
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
G
0.700
CausalMutation
CLINVAR
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
16043844 2005
rs80356553
VCAN;VCAN-AS1
Hyaloideoretinal degeneration of Wagner
T
0.700
GeneticVariation
CLINVAR
rs173686
×
Entrez Id: 1462
Gene Symbol: VCAN
VCAN
Intracranial Aneurysm
0.020
GeneticVariation
BEFREE
The data do not support the hypothesis that the two SNPs (rs173686 and rs251124) in the promoter region of the CSPG2 gene influence the development of intracranial aneurysms in Chinese Han nationality.
18484070 2007
rs173686
×
Entrez Id: 1462
Gene Symbol: VCAN
VCAN
Intracranial Aneurysm
0.020
GeneticVariation
BEFREE
In stage 1, we found several SNPs in strong linkage disequilibrium and haplotypes constituting these SNPs associated with IA s in the Dutch population (strongest SNP association for rs173686 with odds ratio=1.34, 95% CI=1.09 to 1.65, P=0.004).
16917090 2006
rs757070887
×
Entrez Id: 1462
Gene Symbol: VCAN
VCAN
Retinitis Pigmentosa
0.010
GeneticVariation
BEFREE
In one family, exome analyses of two affected individuals revealed a homozygous missense mutation (c.883G>A ; p.Asp295Asn ) in the AGBL5 (Agbl5; CCP5) gene, previously not reported to be associated with RP .
26720455 2015
rs160277
VCAN;VCAN-AS1
Stomach Carcinoma
0.010
GeneticVariation
BEFREE
Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence susceptibility to intestinal-type gastric cancer .
19655167 2010
rs160277
VCAN;VCAN-AS1
Malignant neoplasm of stomach
0.010
GeneticVariation
BEFREE
Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence susceptibility to intestinal-type gastric cancer .
19655167 2010