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: C0346398
Disease: Mixed follicular and papillary thyroid carcinoma
Mixed follicular and papillary thyroid carcinoma 		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: C0346398
Disease: Mixed follicular and papillary thyroid carcinoma
Mixed follicular and papillary thyroid carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1057518830
rs1057518830 		1.000 0.040 19 1221331 inframe deletion CTG/- delins
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation 		0.700 0
dbSNP: rs1555738475
rs1555738475 		0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C4021963
Disease: Lip hyperpigmentation
Lip hyperpigmentation 		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: 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: 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: 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
dbSNP: rs121913321
rs121913321 		1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC 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 5 1998 2010
dbSNP: rs1568710381
rs1568710381 		1.000 0.160 19 1221976 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 5 1999 2017
dbSNP: rs786201090
rs786201090 		1.000 0.160 19 1221996 missense variant 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 1.000 5 1999 2010
dbSNP: rs137853076
rs137853076 		1.000 0.160 19 1207163 stop gained A/G;T snv 4.1E-06
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 1998 2007
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: 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: rs112675807
rs112675807 		1.000 0.160 19 1218416 splice acceptor variant G/A;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 1.000 3 2000 2005
dbSNP: rs1131690917
rs1131690917 		1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG 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 1999 2013
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: rs1057520039
rs1057520039 		0.882 0.200 19 1207169 stop gained 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 2 1999 2016
dbSNP: rs1131690921
rs1131690921 		1.000 0.160 19 1221341 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 2 2004 2005