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: rs786204859
rs786204859
PTEN
3 0.925 0.080 10 87933166 missense variant G/A snv 0.700 1.000 7 1998 2014
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
2 1.000 0.080 10 87864517 stop gained T/A;C;G snv 8.0E-06 0.700 1.000 6 2003 2011
dbSNP: rs762518389
rs762518389
PTEN
2 0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 6 2003 2015
dbSNP: rs786204900
rs786204900
PTEN
2 1.000 0.080 10 87933246 frameshift variant AA/-;A delins 0.700 1.000 5 2002 2014
dbSNP: rs1060500110
rs1060500110
PTEN
1 1.000 0.080 10 87958019 splice donor variant G/- delins 0.700 1.000 4 1998 2011
dbSNP: rs121913291
rs121913291
PTEN
2 0.925 0.080 10 87961055 frameshift variant A/-;AA delins 0.700 1.000 3 2007 2013
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: rs786204864
rs786204864
PTEN
2 1.000 0.080 10 87952136 stop gained C/T snv 0.700 1.000 3 2006 2016
dbSNP: rs1057519724
rs1057519724
PTEN
3 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 2 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: rs1114167623
rs1114167623
PTEN
2 1.000 0.080 10 87933034 missense variant A/C;G snv 0.700 1.000 2 2011 2013
dbSNP: rs1114167632
rs1114167632
PTEN
2 1.000 0.080 10 87952136 frameshift variant -/A delins 0.700 1.000 2 2007 2016
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: rs371387815
rs371387815
PTEN
2 1.000 0.080 10 87960984 stop gained C/A;G;T snv 1.2E-05 0.700 1.000 2 2011 2013
dbSNP: rs587782341
rs587782341
PTEN
2 1.000 0.080 10 87957958 frameshift variant -/A delins 0.700 1.000 2 2004 2013
dbSNP: rs786202398
rs786202398
PTEN
2 0.925 0.080 10 87925518 stop gained T/A;G snv 0.700 1.000 2 1997 2016
dbSNP: rs878853936
rs878853936
PTEN
2 1.000 0.080 10 87925543 stop gained C/A;G;T snv 0.700 1.000 2 2013 2016
dbSNP: rs886047397
rs886047397
PTEN
1 1.000 0.080 10 87960892 splice acceptor variant A/- del 0.700 1.000 2 1998 2011