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: 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: rs10786774
rs10786774 		10 103884565 intron variant G/C snv 0.90
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		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
dbSNP: rs11191841
rs11191841 		10 103879853 3 prime UTR variant T/C snv 0.47
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs11191841
rs11191841 		10 103879853 3 prime UTR variant T/C snv 0.47
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 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: 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: 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: 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: 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: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
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