STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Disease: Peutz-Jeghers Syndrome ×
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: 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: 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: 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
dbSNP: rs1555738319
rs1555738319 		1.000 0.160 19 1220580 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 1.000 2 2004 2005
dbSNP: rs786201349
rs786201349 		1.000 0.160 19 1220376 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 2005 2013
dbSNP: rs1057520038
rs1057520038 		0.925 0.160 19 1220627 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 1 2011 2011
dbSNP: rs1057520040
rs1057520040 		1.000 0.160 19 1218449 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 1.000 1 1999 1999
dbSNP: rs1057520041
rs1057520041 		1.000 0.160 19 1220438 missense variant T/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 0.710 1.000 1 2003 2003
dbSNP: rs1085307466
rs1085307466 		1.000 0.160 19 1221990 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 0.010 1.000 1 2011 2011
dbSNP: rs137853083
rs137853083 		1.000 0.160 19 1221216 stop gained C/G;T snv 4.0E-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 0.710 1.000 1 2004 2004
dbSNP: rs587778695
rs587778695 		1.000 0.160 19 1223152 missense variant C/A;T snv 4.1E-06; 8.2E-05
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 1 2012 2012
dbSNP: rs730881984
rs730881984 		1.000 0.160 19 1221977 missense variant G/A;T snv 5.6E-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 0.010 1.000 1 2019 2019