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: 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: 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: rs121913315
rs121913315
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.800 1.000 1 1999 1999
dbSNP: rs137853080
rs137853080
1.000 0.040 19 1207058 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.800 0
dbSNP: rs137853081
rs137853081
1.000 0.040 19 1219352 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.800 0
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: 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: 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: rs587776661
rs587776661
1.000 0.160 19 1221976 frameshift variant G/- 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 0.710 1.000 1 2019 2019
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
dbSNP: rs1131690950
rs1131690950
1.000 0.160 19 1207204 splice donor variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2001 2015
dbSNP: rs1131690940
rs1131690940
1.000 0.160 19 1220641 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 5 1998 2006
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: rs730881973
rs730881973
19 1220451 missense variant C/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: 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: 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: rs1131690951
rs1131690951
19 1218501 splice donor 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 4 2002 2007
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