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: rs397518440
rs397518440
STK11
1.000 0.160 19 1219367 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1998 2007
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: rs1131690947
rs1131690947
STK11
19 1221962 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2010 2010
dbSNP: rs1555737814
rs1555737814
STK11
1.000 0.160 19 1219389 frameshift variant GT/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs1131690924
rs1131690924
STK11
19 1207019 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690936
rs1131690936
STK11
19 1207108 frameshift variant GGTG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555735008
rs1555735008
STK11
1.000 0.160 19 1207093 frameshift variant C/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1555735014
rs1555735014
STK11
1.000 0.160 19 1207112 frameshift variant C/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1555737444
rs1555737444
STK11
19 1218483 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555738667
rs1555738667
STK11
1.000 0.160 19 1221294 frameshift variant C/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1555738723
rs1555738723
STK11
1.000 0.160 19 1221329 frameshift variant A/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs397518440
rs397518440
STK11
1.000 0.160 19 1219367 frameshift variant C/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs587776656
rs587776656
STK11
1.000 0.160 19 1221321 frameshift variant G/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs587776660
rs587776660
STK11
1.000 0.160 19 1221994 inframe deletion TCCGGCAGC/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs730881958
rs730881958
STK11
19 1207047 inframe deletion TCATCGGCAAGT/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs786203624
rs786203624
STK11
19 1221985 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs864622707
rs864622707
STK11
1.000 0.160 19 1219343 frameshift variant T/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1131690935
rs1131690935
STK11
19 1221973 inframe deletion GGTTCTCCATCCGGCAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1992 2014
dbSNP: rs121913321
rs121913321
STK11
1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 5 1998 2010
dbSNP: rs1131690917
rs1131690917
STK11
1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 3 1999 2013
dbSNP: rs121913321
rs121913321
STK11
1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2005 2005
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: 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: 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: 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