Source: CURATED ×
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: rs1114167641
rs1114167641
PTEN
2 1.000 0.080 10 87933200 frameshift variant GG/A delins 0.700 1.000 1 2016 2016
dbSNP: rs1114167678
rs1114167678
PTEN
2 1.000 0.080 10 87933025 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1114167680
rs1114167680
PTEN
2 1.000 0.080 10 87960976 frameshift variant TATGTGATCAAGAAATC/G delins 0.700 1.000 1 2016 2016
dbSNP: rs1114167682
rs1114167682
PTEN
2 1.000 0.080 10 87961049 frameshift variant T/- delins 0.700 1.000 1 2011 2011
dbSNP: rs121909220
rs121909220
PTEN
2 0.925 0.080 10 87933228 stop gained G/T snv 0.700 1.000 1 1994 1994
dbSNP: rs1554898084
rs1554898084
PTEN
2 1.000 0.080 10 87933059 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs1554898163
rs1554898163
PTEN
1 1.000 0.080 10 87933173 frameshift variant T/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1564837868
rs1564837868
PTEN
1 1.000 0.080 10 87952171 frameshift variant AGAA/- delins 0.700 1.000 1 2011 2011
dbSNP: rs587781912
rs587781912
PTEN ; KLLN
2 1.000 0.080 10 87864519 frameshift variant AA/- del 0.700 1.000 1 2006 2006
dbSNP: rs587782304
rs587782304
PTEN
2 1.000 0.080 10 87961076 frameshift variant TAAA/- delins 0.700 1.000 1 1999 1999
dbSNP: rs606231169
rs606231169
PTEN
2 0.925 0.080 10 87957978 frameshift variant AAGTA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs780264945
rs780264945
PTEN
2 1.000 0.080 10 87957962 frameshift variant TG/- delins 0.700 1.000 1 2015 2015
dbSNP: rs886044679
rs886044679
PTEN
1 1.000 0.080 10 87960917 frameshift variant A/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1057520208
rs1057520208
PTEN
1 1.000 0.080 10 87933012 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057520900
rs1057520900
PTEN
2 0.925 0.080 10 87957893 stop gained T/C;G snv 0.700 0
dbSNP: rs1060500113
rs1060500113
PTEN
1 1.000 0.080 10 87925547 frameshift variant -/T delins 0.700 0
dbSNP: rs1060500114
rs1060500114
PTEN
1 1.000 0.080 10 87952254 frameshift variant C/- del 0.700 0
dbSNP: rs1060500115
rs1060500115
PTEN
2 1.000 0.080 10 87957938 frameshift variant -/T delins 0.700 0
dbSNP: rs1060500116
rs1060500116
PTEN
1 1.000 0.080 10 87925524 stop gained C/G snv 0.700 0
dbSNP: rs1060500124
rs1060500124
PTEN
1 1.000 0.080 10 87933253 splice donor variant T/- del 0.700 0
dbSNP: rs1064792910
rs1064792910
PTEN
1 1.000 0.080 10 87933104 frameshift variant -/GACAATCATGTTG delins 0.700 0
dbSNP: rs1085308039
rs1085308039
PTEN
6 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
dbSNP: rs1085308049
rs1085308049
PTEN
3 0.925 0.080 10 87957885 stop gained A/T snv 0.700 0
dbSNP: rs1085308053
rs1085308053
PTEN
5 0.882 0.080 10 87952230 missense variant C/T snv 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 0