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 21 1998 2017
dbSNP: rs876660634
rs876660634
PTEN
10 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 1.000 13 1997 2017
dbSNP: rs587782350
rs587782350
PTEN
9 0.776 0.160 10 87957955 missense variant C/T snv 0.700 1.000 12 1999 2017
dbSNP: rs786201044
rs786201044
PTEN
8 0.827 0.200 10 87933165 missense variant T/C snv 0.700 1.000 10 2000 2014
dbSNP: rs786204900
rs786204900
PTEN
2 1.000 0.080 10 87933246 frameshift variant AA/-;A delins 0.700 1.000 9 2002 2017
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 8 1997 2017
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 8 1997 2014
dbSNP: rs762518389
rs762518389
PTEN
3 0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 8 2003 2015
dbSNP: rs1554893831
rs1554893831
PTEN
1 10 87894102 inframe deletion GTA/- delins 0.700 1.000 7 1999 2015
dbSNP: rs1554897280
rs1554897280
PTEN
2 1.000 0.080 10 87925558 splice donor variant G/A;T snv 0.700 1.000 7 1999 2015
dbSNP: rs398123317
rs398123317
PTEN
8 0.790 0.160 10 87925550 missense variant T/A;C;G snv 0.700 1.000 7 1998 2015
dbSNP: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.700 1.000 7 1998 2008
dbSNP: rs587782360
rs587782360
PTEN
5 0.851 0.280 10 87933162 missense variant A/G snv 0.700 1.000 7 1999 2012
dbSNP: rs121913293
rs121913293
PTEN
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 6 2000 2015
dbSNP: rs146650273
rs146650273
PTEN
4 0.882 0.160 10 87961042 frameshift variant ACTT/- delins 0.700 1.000 6 1997 2014
dbSNP: rs1554826024
rs1554826024
PTEN
1 10 87965294 missense variant T/C snv 0.700 1.000 6 1997 2013
dbSNP: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 1.000 6 2000 2018
dbSNP: rs786201995
rs786201995
PTEN ; KLLN
2 1.000 0.120 10 87864539 missense variant G/A;C;T snv 0.700 1.000 6 1999 2013
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
2 1.000 0.040 10 87864514 missense variant A/C;T snv 0.700 1.000 5 2007 2015
dbSNP: rs1114167664
rs1114167664
PTEN
1 10 87957970 missense variant GT/TG mnv 0.700 1.000 5 1999 2016
dbSNP: rs121913289
rs121913289
PTEN
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 5 2007 2017
dbSNP: rs587776667
rs587776667
PTEN
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 5 1997 2017
dbSNP: rs786202517
rs786202517
PTEN
1 10 87894050 missense variant GG/AC mnv 0.700 1.000 5 1998 2011
dbSNP: rs876660535
rs876660535
PTEN
2 1.000 0.080 10 87933130 missense variant G/A snv 0.700 1.000 5 2003 2010
dbSNP: rs1085308041
rs1085308041
PTEN
12 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 4 2009 2017