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: rs2995264
rs2995264 		0.851 0.080 10 103909085 intron variant G/A snv 0.88
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
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: 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: 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: 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