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: 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: rs11191847
rs11191847 		10 103890868 intron variant G/C;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
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: rs12765878
rs12765878 		0.925 0.160 10 103909864 intron variant T/A;C snv
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12765878
rs12765878 		0.925 0.160 10 103909864 intron variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2487999
rs2487999 		10 103900068 missense variant T/A;C snv 4.0E-06; 0.91
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2487999
rs2487999 		10 103900068 missense variant T/A;C snv 4.0E-06; 0.91
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: rs3814219
rs3814219 		10 103887337 intron variant G/A snv 0.22
CUI: C0011904
Disease: Diagnostic Techniques, Cardiovascular
Diagnostic Techniques, Cardiovascular 		0.700 1.000 1 2007 2007
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
dbSNP: rs10883944
rs10883944 		1.000 0.040 10 103891899 intron variant G/T snv 0.31
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2019 2019
dbSNP: rs10883944
rs10883944 		1.000 0.040 10 103891899 intron variant G/T snv 0.31
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019