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: rs1057517809
rs1057517809
PTEN
4 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1057519368
rs1057519368
PTEN
4 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs1060500115
rs1060500115
PTEN
2 1.000 0.080 10 87957938 frameshift variant -/T delins 0.700 0
dbSNP: rs1060500122
rs1060500122
PTEN
2 1.000 0.080 10 87933204 stop gained C/T snv 0.700 1.000 2 2011 2012
dbSNP: rs1064793243
rs1064793243
PTEN
2 1.000 0.080 10 87933082 missense variant T/C snv 0.700 1.000 3 2007 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: rs1064796078
rs1064796078
PTEN ; KLLN
1 10 87864515 missense variant T/C;G snv 0.700 1.000 1 2014 2014
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
dbSNP: rs1085308056
rs1085308056
PTEN
8 0.851 0.160 10 87957850 splice region variant C/G snv 0.700 1.000 2 2009 2013
dbSNP: rs1114167621
rs1114167621
PTEN
8 0.790 0.160 10 87931045 splice acceptor variant G/A;C;T snv 0.700 1.000 2 2000 2011
dbSNP: rs1114167622
rs1114167622
PTEN
8 0.790 0.160 10 87952260 splice donor variant G/C snv 0.700 1.000 2 2011 2013
dbSNP: rs1114167623
rs1114167623
PTEN
2 1.000 0.080 10 87933034 missense variant A/C;G snv 0.700 1.000 3 2011 2015
dbSNP: rs1114167624
rs1114167624
PTEN
2 1.000 0.080 10 87961120 splice donor variant T/C;G snv 0.700 0
dbSNP: rs1114167625
rs1114167625
PTEN ; KLLN
1 10 87864508 inframe deletion AAG/- del 0.700 1.000 1 2011 2011
dbSNP: rs1114167626
rs1114167626
PTEN
1 10 87933074 frameshift variant T/- del 0.700 1.000 1 2011 2011
dbSNP: rs1114167627
rs1114167627
PTEN
1 10 87933192 frameshift variant T/- delins 0.700 0
dbSNP: rs1114167628
rs1114167628
PTEN
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.700 0
dbSNP: rs1114167629
rs1114167629
PTEN
2 1.000 0.080 10 87933087 stop gained C/G;T snv 4.0E-06 0.700 1.000 4 1997 2006
dbSNP: rs1114167631
rs1114167631
PTEN
1 10 87952127 frameshift variant A/- del 0.700 1.000 1 2011 2011
dbSNP: rs1114167632
rs1114167632
PTEN
2 1.000 0.080 10 87952136 frameshift variant -/A delins 0.700 0
dbSNP: rs1114167633
rs1114167633
PTEN
1 10 87957979 missense variant A/C snv 0.700 1.000 2 2011 2011
dbSNP: rs1114167634
rs1114167634
PTEN
1 10 87960903 frameshift variant T/- delins 0.700 0
dbSNP: rs1114167635
rs1114167635
PTEN
1 10 87952137 frameshift variant AGAG/- del 0.700 0
dbSNP: rs1114167636
rs1114167636
PTEN
1 10 87894054 frameshift variant TT/- delins 0.700 0
dbSNP: rs1114167637
rs1114167637
PTEN
1 10 87933019 frameshift variant A/- delins 0.700 0