Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554825165
rs1554825165
PTEN
0.790 0.160 10 87957872 stop gained C/A snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1554825643
rs1554825643
PTEN
0.790 0.160 10 87961107 frameshift variant C/- delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1554897854
rs1554897854
PTEN
0.790 0.160 10 87931042 splice acceptor variant AGTT/- delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1554897889
rs1554897889
PTEN
0.790 0.160 10 87931094 splice region variant G/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1554898083
rs1554898083
PTEN
0.790 0.160 10 87933057 frameshift variant -/T delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1554898085
rs1554898085
PTEN
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1554898242
rs1554898242
PTEN
0.790 0.160 10 87933252 splice donor variant G/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1554898244
rs1554898244
PTEN
0.790 0.160 10 87933253 splice donor variant T/C;G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1554900675
rs1554900675
PTEN
0.790 0.160 10 87952263 splice region variant A/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs370795352
rs370795352
PTEN
0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs397515374
rs397515374
PTEN
0.790 0.160 10 87952159 stop gained TA/AT mnv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs398123317
rs398123317
PTEN
0.790 0.160 10 87925550 missense variant T/A;C;G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs398123318
rs398123318
PTEN
0.776 0.240 10 87925558 splice region variant AGTA/- delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs587776666
rs587776666
PTEN
0.790 0.160 10 87933106 frameshift variant ACAAT/- del
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs587776667
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs587776669
rs587776669
PTEN
0.790 0.160 10 87957914 frameshift variant A/- del
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs587776670
rs587776670
PTEN
0.790 0.160 10 87952211 frameshift variant C/- del 7.0E-06
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs587776671
rs587776671
PTEN ; KLLN
0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs587776672
rs587776672
PTEN
0.790 0.160 10 87960893 splice acceptor variant G/- delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs587776673
rs587776673
PTEN
0.790 0.160 10 87952130 frameshift variant C/- delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs587781784
rs587781784
PTEN
0.790 0.160 10 87952116 splice acceptor variant A/C;G;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 8 1999 2017
dbSNP: rs587782455
rs587782455
PTEN
0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs727504114
rs727504114
PTEN
0.790 0.160 10 87952261 splice donor variant T/C;G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017