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: rs1555738475
rs1555738475 		0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555738475
rs1555738475 		0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C4020959
Disease: Abnormal pigmentation of the oral mucosa
Abnormal pigmentation of the oral mucosa 		0.700 0
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: rs1057520017
rs1057520017 		1.000 0.040 19 1220630 missense variant C/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2007 2007
dbSNP: rs121913315
rs121913315 		0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2007 2007
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: 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: 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: rs121913322
rs121913322 		0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
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: rs59912467
rs59912467 		0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs929783669
rs929783669 		1.000 0.080 19 1220674 missense variant T/C snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
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: 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
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: rs1057520038
rs1057520038 		0.925 0.160 19 1220627 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913317
rs121913317 		1.000 0.080 19 1220503 stop gained G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1555738372
rs1555738372 		1.000 0.080 19 1220605 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587782835
rs587782835 		1.000 0.080 19 1223164 missense variant C/A;T snv 4.1E-06; 1.7E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs59912467
rs59912467 		0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
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: 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: 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: rs59912467
rs59912467 		0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs8111699
rs8111699 		0.851 0.200 19 1209715 intron variant C/G snv 0.53
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2015 2015