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: C4479220
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
0.800 GeneticVariation UNIPROT
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: rs765462548
rs765462548
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C4479220
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
0.800 GeneticVariation UNIPROT
dbSNP: rs3814219
rs3814219
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0011904
Disease:
Diagnostic Techniques, Cardiovascular
0.700 GeneticVariation GWASCAT Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. 17903301 2007
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: rs11191865
rs11191865
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0206062
Disease:
Lung Diseases, Interstitial
A 0.800 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
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: rs1980653
rs1980653
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0206062
Disease:
Lung Diseases, Interstitial
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs2067832
rs2067832
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0206062
Disease:
Lung Diseases, Interstitial
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs2995264
rs2995264
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0151779
Disease:
Cutaneous Melanoma
G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. 26237428 2015
dbSNP: rs2995264
rs2995264
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0153536
Disease:
Malignant melanoma of skin of lower limb
G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. 26237428 2015
dbSNP: rs2995264
rs2995264
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0153535
Disease:
Malignant melanoma of skin of upper limb
G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. 26237428 2015
dbSNP: rs4387287
rs4387287
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0428883
Disease:
Diastolic blood pressure
A 0.700 GeneticVariation GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
dbSNP: rs4387287
rs4387287
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0020538
Disease:
Hypertensive disease
A 0.700 GeneticVariation GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
dbSNP: rs4387287
rs4387287
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0871470
Disease:
Systolic Pressure
A 0.700 GeneticVariation GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
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: 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: rs11598018
rs11598018
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0085136
Disease:
Central Nervous System Neoplasms
C 0.700 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
dbSNP: rs11598018
rs11598018
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0017638
Disease:
Glioma
C 0.700 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
dbSNP: rs2995264
rs2995264
Entrez Id: 79991
Gene Symbol: STN1
STN1
CUI: C0025202
Disease:
melanoma
G 0.700 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542 2017
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: 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: 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