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: rs1131690940
rs1131690940
STK11
1.000 0.160 19 1220641 stop gained C/T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.710 1.000 8 1998 2015
dbSNP: rs1131690940
rs1131690940
STK11
1.000 0.160 19 1220641 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1998 2006
dbSNP: rs137853076
rs137853076
STK11
1.000 0.160 19 1207163 stop gained A/G;T snv 4.1E-06
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 4 1998 2007
dbSNP: rs778376925
rs778376925
STK11
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 		0.700 1.000 4 1998 2014
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: 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: 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: 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: 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: 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: rs121913317
rs121913317
STK11
1.000 0.080 19 1220503 stop gained G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913323
rs121913323
STK11
1.000 0.040 19 1220416 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913324
rs121913324
STK11
1.000 0.160 19 1207022 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913325
rs121913325
STK11
19 1223060 stop gained G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs137853079
rs137853079
STK11
1.000 0.120 19 1207021 stop gained C/A;G;T snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2014 2014
dbSNP: rs730881970
rs730881970
STK11
19 1219358 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2004 2004
dbSNP: rs730881976
rs730881976
STK11
0.882 0.240 19 1220702 stop gained C/A;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2013 2013
dbSNP: rs1131690923
rs1131690923
STK11
19 1220623 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690925
rs1131690925
STK11
19 1218493 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690945
rs1131690945
STK11
19 1221999 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs121913323
rs121913323
STK11
1.000 0.040 19 1220416 stop gained C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs121913324
rs121913324
STK11
1.000 0.160 19 1207022 stop gained C/T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs137853075
rs137853075
STK11
1.000 0.160 19 1221237 stop gained C/A;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0