CCDC97, coiled-coil domain containing 97, 90324

N. diseases: 2; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56254331
rs56254331
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0018965
Disease:
Hematuria
A 0.700 GeneticVariation GWASCAT Sequence variants associating with urinary biomarkers. 30476138 2019
dbSNP: rs73045269
rs73045269
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C1956346
Disease:
Coronary Artery Disease
T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs2241718
rs2241718
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE In conclusion, this meta-analysis showed that the C allele of rs1982073 was protective against COPD in Caucasians but not in Asians, whereas there was no association of rs1800469, rs2241712, rs6957, and rs2241718 with COPD. 28784933 2017
dbSNP: rs2241718
rs2241718
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377). 23267696 2012
dbSNP: rs2241718
rs2241718
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE We genotyped 160 cases and 177 control subjects in a local hospital using the Mass-Array(TM) Technology Platform and then tested the association of four SNPs in TGF-β(1) (rs6957, rs1800469, rs2241712, and rs2241718) with COPD. 21556788 2011
dbSNP: rs6957
rs6957
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.020 GeneticVariation BEFREE No associations with COPD were identified for other polymorphisms evaluated in the present study including rs1800469 (T allele compared with C allele, OR =0.89, 95% CI: 0.77-1.02, <i>P</i>=0.099), rs2241712 (A allele compared with G allele, OR =1.03, 95% CI: 0.89-1.20, <i>P</i>=0.666), rs6957 (A allele compared with G allele, OR =1.14, 95% CI: 0.95-1.36, <i>P</i>=0.160), and rs2241718 (C allele compared with T allele, OR =0.95, 95% CI: 0.79-1.14, <i>P</i>=0.571). 28784933 2017
dbSNP: rs6957
rs6957
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.020 GeneticVariation BEFREE Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377). 23267696 2012
dbSNP: rs2241718
rs2241718
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0034069
Disease:
Pulmonary Fibrosis
0.010 GeneticVariation BEFREE A functional polymorphism (Q705K; rs35829419) in the NLRP3 gene was associated with interstitial lung fibrosis (p=0.013), and the TGFB1 rs2241718 SNP with visceral pleural fibrosis (VPF) (p=0.044). 24142982 2014
dbSNP: rs2241718
rs2241718
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0221227
Disease:
Centriacinar Emphysema
0.010 GeneticVariation BEFREE The TGFB1 rs2241718 and MMP9 rs3918242 SNPs were associated with centrilobular emphysema (p = 0.022 and p = 0.008), and the TNF rs1800629 SNP with paraseptal emphysema (p = 0.017). 23734748 2013
dbSNP: rs2241718
rs2241718
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0264394
Disease:
Paraseptal emphysema
0.010 GeneticVariation BEFREE The TGFB1 rs2241718 and MMP9 rs3918242 SNPs were associated with centrilobular emphysema (p = 0.022 and p = 0.008), and the TNF rs1800629 SNP with paraseptal emphysema (p = 0.017). 23734748 2013
dbSNP: rs2241719
rs2241719
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0039494
Disease:
Temporomandibular Joint Disorders
0.010 GeneticVariation BEFREE Interactions were observed between TGFβ1 and IL-8 SNPs: an additional copy of the TGFβ1 rs2241719 minor T allele was associated with twice the odds of TMD+WPT among individuals homozygous for the IL-8 rs4073 major A allele, and half the odds of TMD+WPT among individuals heterozygous for rs4073. 22000099 2011