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: 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: 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: 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: 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: rs764449808
rs764449808 		1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2007 2007
dbSNP: rs367807476
rs367807476 		1.000 0.080 19 1223035 missense variant C/G;T snv 9.2E-06 1.4E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913315
rs121913315 		0.882 0.160 19 1220488 missense variant 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 0.800 1.000 21 1998 2014
dbSNP: rs137853082
rs137853082 		1.000 0.160 19 1220700 stop gained G/A;C 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 0.800 1.000 15 1998 2017
dbSNP: rs1057520042
rs1057520042 		1.000 0.160 19 1222988 missense variant G/C 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 0.800 1.000 14 1998 2017
dbSNP: rs730881979
rs730881979 		1.000 0.160 19 1220434 missense 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 0.800 1.000 13 1997 2017
dbSNP: rs137853077
rs137853077 		1.000 0.160 19 1207113 missense variant T/C 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 0.810 1.000 11 1998 2019
dbSNP: rs1131690940
rs1131690940 		1.000 0.160 19 1220641 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 0.710 1.000 9 1998 2015
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
dbSNP: rs1131690935
rs1131690935 		19 1221973 inframe deletion GGTTCTCCATCCGGCAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1992 2014
dbSNP: rs121913315
rs121913315 		0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1999 2013
dbSNP: rs1568708382
rs1568708382 		1.000 0.160 19 1220708 missense 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 1.000 7 2001 2014