STN1, STN1 subunit of CST complex, 79991

N. diseases: 82; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519583
rs1057519583
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0007789
Disease:
Cerebral Palsy
0.010 GeneticVariation BEFREE Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome. 31245382 2019
dbSNP: rs1057519583
rs1057519583
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C1837218
Disease:
Cleft palate, isolated
0.010 GeneticVariation BEFREE Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome. 31245382 2019
dbSNP: rs11191865
rs11191865
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0036421
Disease:
Systemic Scleroderma
0.010 GeneticVariation BEFREE We found an association of SSc with the SNP rs6793295 in the LRRC34 gene (OR = 1.14, CI 95 % 1.03 to 1.25, p value = 0.009) and rs11191865 in the OBFC1 gene (OR = 1.09, CI 95 % 1.00 to 1.19, p value = 0.043) in the discovery cohort. 26792595 2016
dbSNP: rs11191865
rs11191865
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0595989
Disease:
Carcinoma of larynx
0.010 GeneticVariation BEFREE In addition, the rs9325507 T/C genotype, rs3814220 G/A genotype, rs12765878 C/T genotype and rs11191865 A/G genotype had a lower risk of LC based on the results of logistic regression model analysis. 31016429 2019
dbSNP: rs12765878
rs12765878
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0595989
Disease:
Carcinoma of larynx
0.010 GeneticVariation BEFREE In addition, the rs9325507 T/C genotype, rs3814220 G/A genotype, rs12765878 C/T genotype and rs11191865 A/G genotype had a lower risk of LC based on the results of logistic regression model analysis. 31016429 2019
dbSNP: rs2487999
rs2487999
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In logistic regression models, the per-allele odds ratio (OR) for cancer was 1.05 (95% CI 1.03-1.07) for the allele sum, 1.05 (1.02-1.09) for rs7726159, 1.05 (1.02-1.08) for rs1317082 and 1.07 (1.02-1.12) for rs2487999. 27498151 2016
dbSNP: rs2487999
rs2487999
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE In logistic regression models, the per-allele odds ratio (OR) for cancer was 1.05 (95% CI 1.03-1.07) for the allele sum, 1.05 (1.02-1.09) for rs7726159, 1.05 (1.02-1.08) for rs1317082 and 1.07 (1.02-1.12) for rs2487999. 27498151 2016
dbSNP: rs4387287
rs4387287
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE For women, there was a decreased risk of CVD death associated with the minor allele (rs4387287), HR=0.7; 95% CI: 0.5-0.9 (CC vs. AC) and HR=0.5; 95% CI: 0.20-1.4 (CC vs. AA) (P-trend <0.01). 22449406 2012
dbSNP: rs765462548
rs765462548
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C1837218
Disease:
Cleft palate, isolated
0.010 GeneticVariation BEFREE Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome. 31245382 2019
dbSNP: rs765462548
rs765462548
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0007789
Disease:
Cerebral Palsy
0.010 GeneticVariation BEFREE Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome. 31245382 2019
dbSNP: rs9420907
rs9420907
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE As a sensitivity analysis, we excluded two telomere length variants in linkage disequilibrium (R<sup>2</sup>>0.5) with GWAS-identified RCC risk variants (rs10936599 and rs9420907) from the telomere length GRS; despite this exclusion, a statistically significant association between the GRS and RCC risk persisted (OR=1.73, 95% CI=1.36-2.21, p<0.0001). 28797570 2017
dbSNP: rs9420907
rs9420907
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE We analyzed 10 SNPs (ZNF676-rs409627, TERT-rs2736100, CTC1-rs3027234, DHX35-rs6028466, PXK-rs6772228, NAF1-rs7675998, ZNF208-rs8105767, OBFC1-rs9420907, ACYP2-rs11125529 and TERC-rs10936599) alone and combined in a LTL genetic score ("teloscore", which explains 2.2% of the telomere variability) in relation to PDAC risk in 2,374 cases and 4,326 controls. 30325019 2019
dbSNP: rs9420907
rs9420907
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0007134
Disease:
Renal Cell Carcinoma
0.010 GeneticVariation BEFREE As a sensitivity analysis, we excluded two telomere length variants in linkage disequilibrium (R<sup>2</sup>>0.5) with GWAS-identified RCC risk variants (rs10936599 and rs9420907) from the telomere length GRS; despite this exclusion, a statistically significant association between the GRS and RCC risk persisted (OR=1.73, 95% CI=1.36-2.21, p<0.0001). 28797570 2017
dbSNP: rs9420907
rs9420907
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C1762616
Disease:
Meningioma, benign, no ICD-O subtype
0.010 GeneticVariation BEFREE Three out of the eight evaluated LTL SNPs were significantly associated with increased meningioma risk (rs10936599: OR 1.14, 95% CI 1.01-1.28, rs2736100: OR 1.13, 95% CI 1.03-1.25, rs9420907: OR 1.22, 95% CI 1.07-1.39). 30796745 2019
dbSNP: rs9420907
rs9420907
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE We investigated whether six genetic variants previously associated with LTL (TERC (rs10936599), TERT (rs2736100), NAF1 (7675998), OBFC1 (rs9420907), ZNF208 (rs8105767), and RTEL1 (rs755017)) are correlated with telomere length (TL) in peripheral blood mononuclear cells (PBMCs) in a cohort of Africans living with and without HIV and undergoing evaluation for tuberculosis (TB). 31388112 2019
dbSNP: rs9420907
rs9420907
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0025286
Disease:
Meningioma
0.010 GeneticVariation BEFREE Three out of the eight evaluated LTL SNPs were significantly associated with increased meningioma risk (rs10936599: OR 1.14, 95% CI 1.01-1.28, rs2736100: OR 1.13, 95% CI 1.03-1.25, rs9420907: OR 1.22, 95% CI 1.07-1.39). 30796745 2019
dbSNP: rs9420907
rs9420907
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0278877
Disease:
Adult Meningioma
0.010 GeneticVariation BEFREE Three out of the eight evaluated LTL SNPs were significantly associated with increased meningioma risk (rs10936599: OR 1.14, 95% CI 1.01-1.28, rs2736100: OR 1.13, 95% CI 1.03-1.25, rs9420907: OR 1.22, 95% CI 1.07-1.39). 30796745 2019
dbSNP: rs1057519583
rs1057519583
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C4479220
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs765462548
rs765462548
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C4479220
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs11191865
rs11191865
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0206062
Disease:
Lung Diseases, Interstitial
A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs10786774
rs10786774
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10883944
rs10883944
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.700 GeneticVariation GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
dbSNP: rs10883944
rs10883944
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C1821417
Disease:
RESTING HEART RATE
0.700 GeneticVariation GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
dbSNP: rs111447985
rs111447985
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0428883
Disease:
Diastolic blood pressure
A 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs11191841
rs11191841
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0016529
Disease:
Forced expiratory volume function
T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019