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: rs376280361
rs376280361 		19 1221997 missense variant G/A;C snv 3.9E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1998 2009
dbSNP: rs397518440
rs397518440 		1.000 0.160 19 1219367 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1998 2007
dbSNP: rs730881972
rs730881972 		1.000 0.080 19 1220395 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 1.000 4 1999 2015
dbSNP: rs778376925
rs778376925 		1.000 0.160 19 1207093 stop gained C/A;G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1998 2014
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: rs121913321
rs121913321 		1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2005 2005
dbSNP: rs137853076
rs137853076 		1.000 0.160 19 1207163 stop gained A/G;T snv 4.1E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 1998 2007
dbSNP: rs137853078
rs137853078 		0.925 0.120 19 1220396 missense variant G/A snv
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 3 1998 2008
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: 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: 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: rs1131690916
rs1131690916 		19 1207059 inframe deletion ATGGGGGACCTG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2009 2013
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: rs1131690934
rs1131690934 		19 1220579 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 1.000 2 2001 2006
dbSNP: rs121913320
rs121913320 		1.000 0.160 19 1221265 frameshift variant TTTG/- 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 2 1998 2005
dbSNP: rs121913324
rs121913324 		1.000 0.160 19 1207022 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2004 2006
dbSNP: rs137853077
rs137853077 		1.000 0.160 19 1207113 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 1998 2006
dbSNP: rs1555735080
rs1555735080 		1.000 0.160 19 1207203 splice donor variant GTAAGTA/- 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 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: rs1568690546
rs1568690546 		1.000 0.160 19 1207205 splice donor variant TAA/- 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 1.000 2 2004 2005
dbSNP: rs587782018
rs587782018 		19 1220718 splice donor variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2001 2003
dbSNP: rs730881969
rs730881969 		19 1219345 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2001 2003