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: rs3830675
rs3830675
PTEN
3 1.000 0.040 10 87931195 intron variant -/TCTTA delins 0.030 1.000 3 2014 2016
dbSNP: rs701848
rs701848
PTEN
10 0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33 0.030 1.000 3 2017 2017
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.010 1.000 1 2005 2005
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: rs121909235
rs121909235
PTEN
8 0.851 0.240 10 87957919 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2735343
rs2735343
PTEN
11 0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs779530981
rs779530981
PTEN
4 1.000 0.160 10 87933035 missense variant C/A snv 0.010 1.000 1 2010 2010