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: rs137853079
rs137853079
STK11
1.000 0.120 19 1207021 stop gained C/A;G;T snv 1.6E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs137853083
rs137853083
STK11
1.000 0.160 19 1221216 stop gained C/G;T snv 4.0E-06
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.710 1.000 0 2004 2004
dbSNP: rs137854584
rs137854584
STK11
1.000 0.160 19 1207082 stop gained G/T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs730881976
rs730881976
STK11
0.882 0.240 19 1220702 stop gained C/A;G snv
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.700 0
dbSNP: rs730881976
rs730881976
STK11
0.882 0.240 19 1220702 stop gained C/A;G snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs730881976
rs730881976
STK11
0.882 0.240 19 1220702 stop gained C/A;G snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs775595174
rs775595174
STK11
19 1218484 stop gained G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs778376925
rs778376925
STK11
1.000 0.160 19 1207093 stop gained C/A;G;T snv 1.2E-05
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs786201213
rs786201213
STK11
1.000 0.160 19 1220613 stop gained C/A;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs864622488
rs864622488
STK11
1.000 0.160 19 1222987 stop gained G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs864622488
rs864622488
STK11
1.000 0.160 19 1222987 stop gained G/A;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 14 1998 2014
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1999 2013
dbSNP: rs1568708382
rs1568708382
STK11
1.000 0.160 19 1220708 missense variant G/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 7 2001 2014
dbSNP: rs730881979
rs730881979
STK11
1.000 0.160 19 1220434 missense variant G/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 7 1997 2017
dbSNP: rs137853077
rs137853077
STK11
1.000 0.160 19 1207113 missense variant T/C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.810 1.000 5 1998 2019
dbSNP: rs1568710381
rs1568710381
STK11
1.000 0.160 19 1221976 missense variant G/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 5 1999 2017
dbSNP: rs730881973
rs730881973
STK11
19 1220451 missense variant C/A;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1999 2013
dbSNP: rs786201090
rs786201090
STK11
1.000 0.160 19 1221996 missense variant C/T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 5 1999 2010
dbSNP: rs886037859
rs886037859
STK11
1.000 0.160 19 1220450 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1999 2013
dbSNP: rs376280361
rs376280361
STK11
19 1221997 missense variant G/A;C snv 3.9E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1998 2009
dbSNP: rs730881972
rs730881972
STK11
1.000 0.080 19 1220395 missense variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1999 2015
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: 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