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: rs121909232
rs121909232
PTEN
9 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
dbSNP: rs786204858
rs786204858
PTEN
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 1.000 5 2013 2018
dbSNP: rs786204900
rs786204900
PTEN
2 1.000 0.080 10 87933246 frameshift variant AA/-;A delins 0.700 1.000 5 2002 2014
dbSNP: rs1060500110
rs1060500110
PTEN
1 1.000 0.080 10 87958019 splice donor variant G/- delins 0.700 1.000 4 1998 2011
dbSNP: rs121909225
rs121909225
PTEN
8 0.790 0.160 10 87894049 missense variant T/C;G snv 0.700 1.000 4 1998 2016
dbSNP: rs121909236
rs121909236
PTEN
2 0.925 0.320 10 87925529 missense variant C/G snv 0.700 1.000 4 2001 2016
dbSNP: rs397514560
rs397514560
PTEN
2 0.925 0.240 10 87933151 missense variant C/G;T snv 0.700 1.000 4 2011 2016
dbSNP: rs587782360
rs587782360
PTEN
5 0.851 0.280 10 87933162 missense variant A/G snv 0.700 1.000 4 1999 2013
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 3 1998 2017
dbSNP: rs121913291
rs121913291
PTEN
2 0.925 0.080 10 87961055 frameshift variant A/-;AA delins 0.700 1.000 3 2007 2013
dbSNP: rs1554898244
rs1554898244
PTEN
7 0.790 0.160 10 87933253 splice donor variant T/C;G snv 0.700 1.000 3 1998 2016
dbSNP: rs1564830522
rs1564830522
PTEN
1 1.000 0.080 10 87933251 splice donor variant G/- delins 0.700 1.000 3 1998 2011
dbSNP: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 1.000 3 2000 2017
dbSNP: rs398123321
rs398123321
PTEN
1 1.000 0.080 10 87933090 missense variant T/C snv 0.700 1.000 3 2016 2018
dbSNP: rs587781784
rs587781784
PTEN
8 0.790 0.160 10 87952116 splice acceptor variant A/C;G;T snv 0.700 1.000 3 1998 2017
dbSNP: rs587782455
rs587782455
PTEN
8 0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05 0.700 1.000 3 1998 2017
dbSNP: rs786204856
rs786204856
PTEN
4 0.882 0.120 10 87933043 missense variant C/T snv 0.700 1.000 3 2011 2018
dbSNP: rs786204864
rs786204864
PTEN
2 1.000 0.080 10 87952136 stop gained C/T snv 0.700 1.000 3 2006 2016
dbSNP: rs1057519368
rs1057519368
PTEN
4 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs1057519724
rs1057519724
PTEN
3 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 2 2016 2018
dbSNP: rs1064792911
rs1064792911
PTEN
1 1.000 0.080 10 87960890 splice acceptor variant TTAGGAC/A delins 0.700 1.000 2 1998 2011
dbSNP: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs1085308052
rs1085308052
PTEN
5 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 1.000 2 2007 2017
dbSNP: rs1114167623
rs1114167623
PTEN
2 1.000 0.080 10 87933034 missense variant A/C;G snv 0.700 1.000 2 2011 2013
dbSNP: rs1114167632
rs1114167632
PTEN
2 1.000 0.080 10 87952136 frameshift variant -/A delins 0.700 1.000 2 2007 2016