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: rs1060500110
rs1060500110
PTEN
1 1.000 0.080 10 87958019 splice donor variant G/- delins 0.700 1.000 4 1998 2011
dbSNP: rs1564830522
rs1564830522
PTEN
1 1.000 0.080 10 87933251 splice donor variant G/- delins 0.700 1.000 3 1998 2011
dbSNP: rs398123321
rs398123321
PTEN
1 1.000 0.080 10 87933090 missense variant T/C snv 0.700 1.000 3 2016 2018
dbSNP: rs1064792911
rs1064792911
PTEN
1 1.000 0.080 10 87960890 splice acceptor variant TTAGGAC/A delins 0.700 1.000 2 1998 2011
dbSNP: rs1554893756
rs1554893756
PTEN
1 1.000 0.080 10 87894032 stop gained T/A snv 0.700 1.000 2 2014 2015
dbSNP: rs1554893765
rs1554893765
PTEN
1 1.000 0.080 10 87894039 inframe deletion ATT/- delins 0.700 1.000 2 2016 2018
dbSNP: rs1554897240
rs1554897240
PTEN
1 1.000 0.080 10 87925496 splice acceptor variant GTTTGTTTTGTTTTAAGG/- del 0.700 1.000 2 1998 2011
dbSNP: rs1554898231
rs1554898231
PTEN
1 1.000 0.080 10 87933244 frameshift variant ACA/A;CC delins 0.700 1.000 2 2013 2015
dbSNP: rs1554898238
rs1554898238
PTEN
1 1.000 0.080 10 87933249 splice donor variant GTAAG/- delins 0.700 1.000 2 1998 2011
dbSNP: rs1554900587
rs1554900587
PTEN
1 1.000 0.080 10 87952165 stop gained CC/GT mnv 0.700 1.000 2 2007 2011
dbSNP: rs1564826836
rs1564826836
PTEN
1 1.000 0.080 10 87925557 splice donor variant GT/- delins 0.700 1.000 2 1998 2011
dbSNP: rs886047397
rs886047397
PTEN
1 1.000 0.080 10 87960892 splice acceptor variant A/- del 0.700 1.000 2 1998 2011
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: 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: 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: 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: rs1554825189
rs1554825189
PTEN
1 1.000 0.080 10 87957909 frameshift variant C/- delins 0.700 0
dbSNP: rs1554825206
rs1554825206
PTEN
1 1.000 0.080 10 87957938 frameshift variant -/CA ins 0.700 0
dbSNP: rs1554825209
rs1554825209
PTEN
1 1.000 0.080 10 87957940 frameshift variant -/TG delins 0.700 0
dbSNP: rs1554825611
rs1554825611
PTEN
1 1.000 0.080 10 87961082 frameshift variant GA/- delins 0.700 0