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: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.030 1.000 3 2001 2015
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.020 0.500 2 2005 2011
dbSNP: rs1114167628
rs1114167628
PTEN
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs1197734477
rs1197734477
PTEN
4 0.925 0.080 10 87961012 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121909235
rs121909235
PTEN
8 0.851 0.240 10 87957919 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121909237
rs121909237
PTEN
2 1.000 0.040 10 87933121 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs398123316
rs398123316
PTEN
9 0.851 0.160 10 87925530 missense variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs765433422
rs765433422
PTEN
7 0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs868257011
rs868257011
PTEN
4 0.925 0.080 10 87961042 frameshift variant TACTT/- del 0.010 1.000 1 2013 2013
dbSNP: rs878853941
rs878853941
PTEN
2 1.000 0.080 10 87952168 frameshift variant -/T delins 0.010 1.000 1 2000 2000
dbSNP: rs886041332
rs886041332
PTEN
2 10 87960962 frameshift variant A/- del 0.010 1.000 1 2011 2011