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: rs1085308048
rs1085308048
PTEN
6 0.851 0.320 10 87933175 stop gained T/G snv 0.010 1.000 1 1998 1998
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: rs786204929
rs786204929
PTEN
12 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121909230
rs121909230
PTEN
2 0.925 0.080 10 87933094 missense variant T/C snv 0.700 1.000 20 1997 2008
dbSNP: rs1554825652
rs1554825652
PTEN
1 1.000 0.080 10 87961113 missense variant T/G snv 0.700 1.000 20 1997 2008
dbSNP: rs398123314
rs398123314
PTEN
1 1.000 0.080 10 87961118 missense variant G/A;C snv 0.700 1.000 20 1997 2008
dbSNP: rs587782343
rs587782343
PTEN
4 0.851 0.200 10 87933073 missense variant G/A snv 0.700 1.000 20 1997 2008
dbSNP: rs587782360
rs587782360
PTEN
5 0.851 0.280 10 87933162 missense variant A/G snv 0.700 1.000 20 1997 2008
dbSNP: rs1554900534
rs1554900534
PTEN
1 1.000 0.080 10 87952133 missense variant A/C;G snv 0.700 1.000 11 1997 2013
dbSNP: rs786201816
rs786201816
PTEN
2 1.000 0.080 10 87961100 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 8 1999 2015
dbSNP: rs786204931
rs786204931
PTEN
3 0.925 0.120 10 87933126 missense variant C/G;T snv 0.700 1.000 8 1997 2012
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 6 2000 2015
dbSNP: rs1064793243
rs1064793243
PTEN
2 1.000 0.080 10 87933082 missense variant T/C snv 0.700 1.000 5 2007 2017
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: rs121913293
rs121913293
PTEN
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
dbSNP: rs1564566706
rs1564566706
PTEN
1 1.000 0.080 10 87957851 splice acceptor variant A/G snv 0.700 1.000 5 1998 2017
dbSNP: rs146650273
rs146650273
PTEN
4 0.882 0.160 10 87961042 frameshift variant ACTT/- delins 0.700 1.000 4 1997 2013
dbSNP: rs398123330
rs398123330
PTEN
2 1.000 0.080 10 87961048 frameshift variant CTTT/- del 0.700 1.000 4 1999 2014
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: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs121913291
rs121913291
PTEN
2 0.925 0.080 10 87961055 frameshift variant A/-;AA delins 0.700 1.000 2 2007 2013
dbSNP: rs121913292
rs121913292
PTEN
2 1.000 0.080 10 87933148 frameshift variant G/- del 0.700 1.000 2 2007 2013
dbSNP: rs138336847
rs138336847
PTEN
8 0.790 0.160 10 87952264 splice region variant G/A;C snv 4.0E-06 0.700 1.000 2 2008 2017
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: rs1564828909
rs1564828909
PTEN
1 1.000 0.080 10 87931040 splice acceptor variant TTTTA/- del 0.700 1.000 2 1998 2011