Gene: PTEN ×
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: rs1554890324
rs1554890324
PTEN ; KLLN
1 1.000 0.080 10 87864470 start lost A/G snv 0.700 1.000 3 2011 2014
dbSNP: rs587776671
rs587776671
PTEN ; KLLN
7 0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs121909225
rs121909225
PTEN
8 0.790 0.160 10 87894049 missense variant T/C;G snv 0.800 1.000 23 1997 2015
dbSNP: rs869312778
rs869312778
PTEN
1 1.000 0.080 10 87894063 stop gained G/T snv 0.700 0
dbSNP: rs786204855
rs786204855
PTEN
1 1.000 0.080 10 87894084 missense variant A/G snv 0.700 0
dbSNP: rs762518389
rs762518389
PTEN
3 0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs786203847
rs786203847
PTEN
8 0.790 0.160 10 87925512 splice acceptor variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs398123316
rs398123316
PTEN
9 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
dbSNP: rs398123317
rs398123317
PTEN
8 0.790 0.160 10 87925550 missense variant T/A;C;G snv 0.800 1.000 23 1997 2015
dbSNP: rs121909226
rs121909226
PTEN
7 0.790 0.160 10 87925557 missense variant T/C snv 0.800 1.000 23 1997 2015
dbSNP: rs1554897280
rs1554897280
PTEN
2 1.000 0.080 10 87925558 splice donor variant G/A;T snv 0.700 1.000 2 1998 2011
dbSNP: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650
PTEN
8 0.790 0.160 10 87925562 splice region variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1564828909
rs1564828909
PTEN
1 1.000 0.080 10 87931040 splice acceptor variant TTTTA/- del 0.700 1.000 2 1998 2011
dbSNP: rs1554897854
rs1554897854
PTEN
7 0.790 0.160 10 87931042 splice acceptor variant AGTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1564828914
rs1564828914
PTEN
1 1.000 0.080 10 87931044 splice acceptor variant A/G snv 0.700 1.000 2 1998 2011
dbSNP: rs1114167621
rs1114167621
PTEN
8 0.790 0.160 10 87931045 splice acceptor variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs587776667
rs587776667
PTEN
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1224040268
rs1224040268
PTEN
12 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
dbSNP: rs1554897889
rs1554897889
PTEN
7 0.790 0.160 10 87931094 splice region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554898053
rs1554898053
PTEN
2 1.000 0.080 10 87933018 stop gained C/T snv 0.700 1.000 1 1998 1998
dbSNP: rs786204856
rs786204856
PTEN
4 0.882 0.120 10 87933043 missense variant C/T snv 0.700 0
dbSNP: rs786204928
rs786204928
PTEN
1 1.000 0.080 10 87933048 stop gained C/G;T snv 7.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs1554898083
rs1554898083
PTEN
7 0.790 0.160 10 87933057 frameshift variant -/T delins 0.700 0