STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
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: rs1057520018
rs1057520018 		0.807 0.080 19 1223124 missense variant T/C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1057520018
rs1057520018 		0.807 0.080 19 1223124 missense variant T/C snv
CUI: C0346398
Disease: Mixed follicular and papillary thyroid carcinoma
Mixed follicular and papillary thyroid carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1057520018
rs1057520018 		0.807 0.080 19 1223124 missense variant T/C snv
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057520018
rs1057520018 		0.807 0.080 19 1223124 missense variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057520018
rs1057520018 		0.807 0.080 19 1223124 missense variant T/C snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1057520018
rs1057520018 		0.807 0.080 19 1223124 missense variant T/C snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1057520039
rs1057520039 		0.882 0.200 19 1207169 stop gained C/G;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1057520039
rs1057520039 		0.882 0.200 19 1207169 stop gained C/G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1085307466
rs1085307466 		1.000 0.160 19 1221990 stop gained C/T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1085307466
rs1085307466 		1.000 0.160 19 1221990 stop gained C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1085307466
rs1085307466 		1.000 0.160 19 1221990 stop gained C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs12977689
rs12977689 		1.000 0.040 19 1226005 3 prime UTR variant C/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs137853080
rs137853080 		1.000 0.040 19 1207058 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2075604
rs2075604 		1.000 0.080 19 1218524 intron variant G/A;T snv 1.6E-05; 0.16
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs375328708
rs375328708 		1.000 0.120 19 1226602 synonymous variant C/G;T snv 6.7E-05 6.3E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs59912467
rs59912467 		0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs59912467
rs59912467 		0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2015 2015