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: rs1057520038
rs1057520038
STK11
2 0.925 0.160 19 1220627 missense variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1057520039
rs1057520039
STK11
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 2 1999 2016
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: rs1057520042
rs1057520042
STK11
1 1.000 0.160 19 1222988 missense variant G/C snv 0.800 1.000 14 1998 2017
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: rs1085307466
rs1085307466
STK11
3 1.000 0.160 19 1221990 stop gained C/T snv 0.010 1.000 1 2011 2011
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: rs1131690917
rs1131690917
STK11
2 1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins 0.700 1.000 3 1999 2013
dbSNP: rs1131690920
rs1131690920
STK11
2 1.000 0.160 19 1222007 splice donor variant G/A snv 0.700 0
dbSNP: rs1131690921
rs1131690921
STK11
2 1.000 0.160 19 1221341 splice donor variant G/T snv 0.700 1.000 2 2004 2005
dbSNP: rs1131690940
rs1131690940
STK11
2 1.000 0.160 19 1220641 stop gained C/T snv 0.710 1.000 9 1998 2015
dbSNP: rs1131690949
rs1131690949
STK11
2 1.000 0.160 19 1221320 frameshift variant -/G delins 0.700 0
dbSNP: rs1131690950
rs1131690950
STK11
2 1.000 0.160 19 1207204 splice donor variant G/A;C snv 0.700 0
dbSNP: rs121913315
rs121913315
STK11
5 0.882 0.160 19 1220488 missense variant G/A;T snv 0.800 1.000 21 1998 2014
dbSNP: rs121913320
rs121913320
STK11
2 1.000 0.160 19 1221265 frameshift variant TTTG/- delins 0.700 1.000 2 1998 2005
dbSNP: rs121913321
rs121913321
STK11
2 1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins 0.700 1.000 5 1998 2010
dbSNP: rs121913324
rs121913324
STK11
3 1.000 0.160 19 1207022 stop gained C/T snv 0.700 0
dbSNP: rs137853075
rs137853075
STK11
1 1.000 0.160 19 1221237 stop gained C/A;T snv 0.700 0
dbSNP: rs137853076
rs137853076
STK11
2 1.000 0.160 19 1207163 stop gained A/G;T snv 4.1E-06 0.700 1.000 4 1998 2007
dbSNP: rs137853077
rs137853077
STK11
2 1.000 0.160 19 1207113 missense variant T/C snv 0.810 1.000 11 1998 2019
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: 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