Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853076
rs137853076
STK11
1.000 0.160 19 1207163 stop gained A/G;T snv 4.1E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1998 2007
dbSNP: rs786205864
rs786205864
STK11
1.000 0.160 19 1221321 frameshift variant -/C delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 3 2000 2005
dbSNP: rs886039554
rs886039554
STK11
1.000 0.160 19 1220506 splice donor variant G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2006 2010
dbSNP: rs1057520039
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 1999 2016
dbSNP: rs1131690916
rs1131690916
STK11
19 1207059 inframe deletion ATGGGGGACCTG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2009 2013
dbSNP: rs1131690921
rs1131690921
STK11
1.000 0.160 19 1221341 splice donor variant G/T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 2004 2005
dbSNP: rs1131690934
rs1131690934
STK11
19 1220579 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2001 2006
dbSNP: rs121913320
rs121913320
STK11
1.000 0.160 19 1221265 frameshift variant TTTG/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 1998 2005
dbSNP: rs121913324
rs121913324
STK11
1.000 0.160 19 1207022 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2004 2006
dbSNP: rs137853077
rs137853077
STK11
1.000 0.160 19 1207113 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2006
dbSNP: rs137853082
rs137853082
STK11
1.000 0.160 19 1220700 stop gained G/A;C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 2 1998 2017
dbSNP: rs1555735080
rs1555735080
STK11
1.000 0.160 19 1207203 splice donor variant GTAAGTA/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 2004 2005
dbSNP: rs1555738319
rs1555738319
STK11
1.000 0.160 19 1220580 splice acceptor variant G/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 2004 2005
dbSNP: rs1568690546
rs1568690546
STK11
1.000 0.160 19 1207205 splice donor variant TAA/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 2004 2005
dbSNP: rs587782018
rs587782018
STK11
19 1220718 splice donor variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2001 2003
dbSNP: rs730881969
rs730881969
STK11
19 1219345 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2001 2003
dbSNP: rs786201349
rs786201349
STK11
1.000 0.160 19 1220376 stop gained C/G;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 2005 2013
dbSNP: rs9282859
rs9282859
STK11
19 1221294 stop gained C/G;T snv 5.8E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2003 2006
dbSNP: rs1057519858
rs1057519858
STK11
1.000 0.080 19 1220495 missense variant G/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057520017
rs1057520017
STK11
1.000 0.040 19 1220630 missense variant C/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs1057520038
rs1057520038
STK11
0.925 0.160 19 1220627 missense variant G/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs1057520039
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2007 2007
dbSNP: rs1057520040
rs1057520040
STK11
1.000 0.160 19 1218449 missense variant A/G snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 1 1999 1999
dbSNP: rs1057520041
rs1057520041
STK11
1.000 0.160 19 1220438 missense variant T/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.710 1.000 1 2003 2003
dbSNP: rs1057520042
rs1057520042
STK11
1.000 0.160 19 1222988 missense variant G/C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 1 1998 2017