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: rs72977586
rs72977586 		0.827 0.120 19 1186317 intron variant G/C snv 0.16
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72977586
rs72977586 		0.827 0.120 19 1186317 intron variant G/C snv 0.16
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72977586
rs72977586 		0.827 0.120 19 1186317 intron variant G/C snv 0.16
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72977586
rs72977586 		0.827 0.120 19 1186317 intron variant G/C snv 0.16
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72977586
rs72977586 		0.827 0.120 19 1186317 intron variant G/C snv 0.16
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1458974438
rs1458974438 		0.807 0.080 19 1206957 missense variant G/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.030 1.000 3 2015 2018
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: rs1555734904
rs1555734904 		19 1206979 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1568689930
rs1568689930 		1.000 0.160 19 1206993 frameshift variant -/C delins
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 0.700 0
dbSNP: rs1131690930
rs1131690930 		19 1207004 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1568689994
rs1568689994 		1.000 0.160 19 1207017 frameshift variant CT/- delins
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 0.700 0
dbSNP: rs1131690924
rs1131690924 		19 1207019 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs137853079
rs137853079 		1.000 0.120 19 1207021 stop gained C/A;G;T snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs137853079
rs137853079 		1.000 0.120 19 1207021 stop gained C/A;G;T snv 1.6E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs121913324
rs121913324 		1.000 0.160 19 1207022 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2004 2006
dbSNP: rs121913324
rs121913324 		1.000 0.160 19 1207022 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913324
rs121913324 		1.000 0.160 19 1207022 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 0.700 0
dbSNP: rs1060499961
rs1060499961 		1.000 0.160 19 1207041 frameshift variant C/- delins
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 0.700 0