STN1, STN1 subunit of CST complex, 79991

N. diseases: 82; N. variants: 19
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4387287
rs4387287 		10 103918139 5 prime UTR variant A/C snv 0.69
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4387287
rs4387287 		10 103918139 5 prime UTR variant A/C snv 0.69
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016
dbSNP: rs4387287
rs4387287 		10 103918139 5 prime UTR variant A/C snv 0.69
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4387287
rs4387287 		10 103918139 5 prime UTR variant A/C snv 0.69
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs1980653
rs1980653 		10 103894406 intron variant A/G snv 0.44
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9420907
rs9420907 		0.790 0.320 10 103916707 intron variant C/A;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9420907
rs9420907 		0.790 0.320 10 103916707 intron variant C/A;G snv
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9420907
rs9420907 		0.790 0.320 10 103916707 intron variant C/A;G snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9420907
rs9420907 		0.790 0.320 10 103916707 intron variant C/A;G snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs9420907
rs9420907 		0.790 0.320 10 103916707 intron variant C/A;G snv
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9420907
rs9420907 		0.790 0.320 10 103916707 intron variant C/A;G snv
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9420907
rs9420907 		0.790 0.320 10 103916707 intron variant C/A;G snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs111447985
rs111447985 		10 103918153 5 prime UTR variant C/A;T snv 1.1E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs11598018
rs11598018 		1.000 0.040 10 103901557 intron variant C/A;T snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11598018
rs11598018 		1.000 0.040 10 103901557 intron variant C/A;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs765462548
rs765462548 		0.882 0.160 10 103898989 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs765462548
rs765462548 		0.882 0.160 10 103898989 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs765462548
rs765462548 		0.882 0.160 10 103898989 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C4479220
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 		0.800 0
dbSNP: rs1057519583
rs1057519583 		0.882 0.160 10 103900115 missense variant C/G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057519583
rs1057519583 		0.882 0.160 10 103900115 missense variant C/G snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057519583
rs1057519583 		0.882 0.160 10 103900115 missense variant C/G snv
CUI: C4479220
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 		0.800 0
dbSNP: rs11191865
rs11191865 		0.925 0.160 10 103913084 intron variant G/A snv 0.44
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11191865
rs11191865 		0.925 0.160 10 103913084 intron variant G/A snv 0.44
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11191865
rs11191865 		0.925 0.160 10 103913084 intron variant G/A snv 0.44
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1570221
rs1570221 		1.000 0.040 10 103897116 intron variant G/A snv 0.29
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019