Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2297141
rs2297141
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C3831784
Disease:
Acute monocytic/monoblastic leukemia
0.010 GeneticVariation BEFREE Additionally, it was shown that the rs2297141 and rs6576776 genotypes were associated with AML-M5 and AML-M2, respectively.Our findings indicated that genetic polymorphisms in the CYR61 gene may be considered potential AML risk factors in the Han Chinese population. 30142822 2018
dbSNP: rs2297141
rs2297141
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Chi-squared tests and logistic regression analysis were performed to compare the different distributions of the genotypes and alleles between patients and healthy controls.The rs2297141 A allele was associated with lower risk of AML compared with the G allele (odds ratio [OR] = 0.704, 95% confidence interval [CI] = 0.503-0.985, P = .04) in both the dominant (OR = 0.447, 95% CI = 0.22-0.909, P = .025, AA vs GG) and recessive inheritance models (OR = 0.419, 95% CI = 0.23-0.763, P = .004, AA vs GA + GG). 30142822 2018
dbSNP: rs6576776
rs6576776
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Although the distribution of the rs6576776 alleles was not different between patients with AML and normal controls, the CC genotype significantly increased the risk of AML in the dominant inheritance model (OR = 6.064, 95% CI = 1.303-28.216, P = .01, CC vs GG) and the recessive inheritance model (OR = 5.937, 95% CI = 1.291-27.306, P = .01, CC vs GC + GG). 30142822 2018
dbSNP: rs6576776
rs6576776
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C3831784
Disease:
Acute monocytic/monoblastic leukemia
0.010 GeneticVariation BEFREE Additionally, it was shown that the rs2297141 and rs6576776 genotypes were associated with AML-M5 and AML-M2, respectively.Our findings indicated that genetic polymorphisms in the CYR61 gene may be considered potential AML risk factors in the Han Chinese population. 30142822 2018
dbSNP: rs1346496644
rs1346496644
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C0018817
Disease:
Atrial Septal Defects
0.010 GeneticVariation BEFREE In addition to three frequent polymorphisms, we identified an extremely rare novel heterozygous missense mutation (c.139C > T; p.R47W) in one patient with severe ASD. 25135600 2015
dbSNP: rs3753793
rs3753793
Entrez Id: 3491;23576
Gene Symbol: CCN1;DDAH1
CCN1;DDAH1
CUI: C0339143
Disease:
Thyroid associated opthalmopathies
0.010 GeneticVariation BEFREE An association with GO was shown for SNPs rs3753793 (OR 1.45, p=0.008), rs6682848 (OR 1.55, p=0.03), rs12756618 (OR 1.77, p=0.049), and rs1378228 (OR 1.29, p=0.049) in CYR61, rs1057745 (OR 1.56, p=0.03) and rs11083522 (OR 1.32, p=0.04) in ZFP36, and rs1393491 (OR 1.38, p=0,048) in SCD. 24780075 2014
dbSNP: rs3753793
rs3753793
Entrez Id: 3491;23576
Gene Symbol: CCN1;DDAH1
CCN1;DDAH1
CUI: C0018213
Disease:
Graves Disease
0.010 GeneticVariation BEFREE SNPs rs12136280 (odds ratio [OR] 1.29, p=0.002), rs6663606 (OR 1.26, p=0.004), and rs17534202 (OR 1.21, p=0.02) in BTG2 and rs3753793 (OR 1.21, p=0.03) in CYR61 were associated with GD. 24780075 2014
dbSNP: rs3753793
rs3753793
Entrez Id: 3491;23576
Gene Symbol: CCN1;DDAH1
CCN1;DDAH1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Our results indicate that the genetic variation of rs3753793 in the CYR61 promoter may contribute to genetic predisposition to PCa and intra-tumor expression gene expression. 23045290 2013
dbSNP: rs3753793
rs3753793
Entrez Id: 3491;23576
Gene Symbol: CCN1;DDAH1
CCN1;DDAH1
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Our results indicate that the genetic variation of rs3753793 in the CYR61 promoter may contribute to genetic predisposition to PCa and intra-tumor expression gene expression. 23045290 2013
dbSNP: rs1172398253
rs1172398253
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C1269955
Disease:
Tumor Cell Invasion
0.010 GeneticVariation BEFREE From this analysis, we show that the Cav-1(P132L) expression signature contains numerous genes that have been previously associated with cell migration, invasion, and metastasis. 19395651 2009
dbSNP: rs1172398253
rs1172398253
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Caveolin-1 (P132L), a common breast cancer mutation, confers mammary cell invasiveness and defines a novel stem cell/metastasis-associated gene signature. 19395651 2009
dbSNP: rs1172398253
rs1172398253
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Caveolin-1 (P132L), a common breast cancer mutation, confers mammary cell invasiveness and defines a novel stem cell/metastasis-associated gene signature. 19395651 2009
dbSNP: rs1172398253
rs1172398253
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE From this analysis, we show that the Cav-1(P132L) expression signature contains numerous genes that have been previously associated with cell migration, invasion, and metastasis. 19395651 2009