UTS2, urotensin 2, 10911

N. diseases: 115; N. variants: 7
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: rs227163
rs227163
1.000 0.120 1 7901146 intergenic variant C/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs11582820
rs11582820
1 7890788 intergenic variant C/T snv 4.2E-02
CUI: C0018498
Disease: Hair Color
Hair Color
0.700 1.000 1 2018 2018
dbSNP: rs41528652
rs41528652
0.925 0.040 1 7896513 intergenic variant A/G snv 7.3E-02
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs41528652
rs41528652
0.925 0.040 1 7896513 intergenic variant A/G snv 7.3E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs707475
rs707475
1.000 0.080 1 7857016 upstream gene variant G/A snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
Nervous System Diseases 0.020 1.000 2 2016 2017
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2012 2018
dbSNP: rs2890565
rs2890565
0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
Nervous System Diseases 0.020 1.000 2 2016 2017
dbSNP: rs2890565
rs2890565
0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2003 2004
dbSNP: rs201977733
rs201977733
1.000 0.080 1 7850908 missense variant C/T snv 5.6E-05 2.1E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0338480
Disease: Common Migraine
Common Migraine
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs228648
rs228648
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2890565
rs2890565
0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2890565
rs2890565
0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2890565
rs2890565
0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2890565
rs2890565
0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016