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: 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: rs9282860
rs9282860 		1.000 0.080 19 1221162 intron variant C/T snv 5.2E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9282859
rs9282859 		19 1221294 stop gained C/G;T snv 5.8E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2003 2006
dbSNP: rs886039554
rs886039554 		1.000 0.160 19 1220506 splice donor variant G/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 1.000 4 2004 2010
dbSNP: rs886039554
rs886039554 		1.000 0.160 19 1220506 splice donor variant G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2006 2010
dbSNP: rs886037926
rs886037926 		1.000 0.160 19 1220449 missense variant A/G 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: rs886037859
rs886037859 		1.000 0.160 19 1220450 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1999 2013
dbSNP: rs886037859
rs886037859 		1.000 0.160 19 1220450 missense variant A/G 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: rs878853247
rs878853247 		1.000 0.160 19 1220692 missense variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs878853247
rs878853247 		1.000 0.160 19 1220692 missense variant G/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: rs876658584
rs876658584 		1.000 0.160 19 1218415 splice acceptor variant A/G 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 1.000 4 1999 2013
dbSNP: rs876658584
rs876658584 		1.000 0.160 19 1218415 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs864622707
rs864622707 		1.000 0.160 19 1219343 frameshift variant T/- del
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: rs864622488
rs864622488 		1.000 0.160 19 1222987 stop gained G/A;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: rs864622488
rs864622488 		1.000 0.160 19 1222987 stop gained G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs863224448
rs863224448 		1.000 0.160 19 1221948 splice acceptor variant G/A 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: rs8111699
rs8111699 		0.851 0.200 19 1209715 intron variant C/G snv 0.53
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2013 2015
dbSNP: rs8111699
rs8111699 		0.851 0.200 19 1209715 intron variant C/G snv 0.53
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs8111699
rs8111699 		0.851 0.200 19 1209715 intron variant C/G snv 0.53
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
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
dbSNP: rs8111699
rs8111699 		0.851 0.200 19 1209715 intron variant C/G snv 0.53
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs8111699
rs8111699 		0.851 0.200 19 1209715 intron variant C/G snv 0.53
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs786205864
rs786205864 		1.000 0.160 19 1221321 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 1.000 3 2000 2005
dbSNP: rs786203624
rs786203624 		19 1221985 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: rs786202431
rs786202431 		1.000 0.160 19 1223007 missense variant C/G;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 1.000 8 1998 2011