Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853082
rs137853082
STK11
1 1.000 0.160 19 1220700 stop gained G/A;C snv 0.800 1.000 15 1998 2017
dbSNP: rs1057520042
rs1057520042
STK11
1 1.000 0.160 19 1222988 missense variant G/C snv 0.800 1.000 14 1998 2017
dbSNP: rs786202431
rs786202431
STK11
1 1.000 0.160 19 1223007 missense variant C/G;T snv 0.700 1.000 8 1998 2011
dbSNP: rs1568708382
rs1568708382
STK11
1 1.000 0.160 19 1220708 missense variant G/A snv 0.700 1.000 7 2001 2014
dbSNP: rs1568710381
rs1568710381
STK11
1 1.000 0.160 19 1221976 missense variant G/A snv 0.700 1.000 5 1999 2017
dbSNP: rs786201090
rs786201090
STK11
1 1.000 0.160 19 1221996 missense variant C/T snv 0.700 1.000 5 1999 2010
dbSNP: rs112675807
rs112675807
STK11
1 1.000 0.160 19 1218416 splice acceptor variant G/A;C;T snv 0.700 1.000 3 2000 2005
dbSNP: rs786205864
rs786205864
STK11
1 1.000 0.160 19 1221321 frameshift variant -/C delins 0.700 1.000 3 2000 2005
dbSNP: rs1555735080
rs1555735080
STK11
1 1.000 0.160 19 1207203 splice donor variant GTAAGTA/- delins 0.700 1.000 2 2004 2005
dbSNP: rs1555738319
rs1555738319
STK11
1 1.000 0.160 19 1220580 splice acceptor variant G/A snv 0.700 1.000 2 2004 2005
dbSNP: rs1568690546
rs1568690546
STK11
1 1.000 0.160 19 1207205 splice donor variant TAA/- del 0.700 1.000 2 2004 2005
dbSNP: rs786201349
rs786201349
STK11
1 1.000 0.160 19 1220376 stop gained C/G;T snv 0.700 1.000 2 2005 2013
dbSNP: rs1057520040
rs1057520040
STK11
1 1.000 0.160 19 1218449 missense variant A/G snv 0.700 1.000 1 1999 1999
dbSNP: rs1057520041
rs1057520041
STK11
1 1.000 0.160 19 1220438 missense variant T/A snv 0.710 1.000 1 2003 2003
dbSNP: rs137853083
rs137853083
STK11
1 1.000 0.160 19 1221216 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2004 2004
dbSNP: rs1555737814
rs1555737814
STK11
1 1.000 0.160 19 1219389 frameshift variant GT/- del 0.700 1.000 1 2017 2017
dbSNP: rs1555738683
rs1555738683
STK11
1 1.000 0.160 19 1221299 frameshift variant T/AC delins 0.700 1.000 1 2006 2006
dbSNP: rs587776661
rs587776661
STK11
1 1.000 0.160 19 1221976 frameshift variant G/- delins 0.710 1.000 1 2019 2019
dbSNP: rs587778695
rs587778695
STK11
1 1.000 0.160 19 1223152 missense variant C/A;T snv 4.1E-06; 8.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs730881984
rs730881984
STK11
1 1.000 0.160 19 1221977 missense variant G/A;T snv 5.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs772062217
rs772062217
STRADA
1 1.000 0.160 17 63704041 missense variant A/C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1060499958
rs1060499958
STK11
1 1.000 0.160 19 1219356 missense variant T/C snv 0.700 0
dbSNP: rs1060499960
rs1060499960
STK11
1 1.000 0.160 19 1223051 frameshift variant ACCGGTGG/- delins 0.700 0
dbSNP: rs1060499961
rs1060499961
STK11
1 1.000 0.160 19 1207041 frameshift variant C/- delins 0.700 0
dbSNP: rs137853075
rs137853075
STK11
1 1.000 0.160 19 1221237 stop gained C/A;T snv 0.700 0