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: rs1085308041
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs786201041
rs786201041
PTEN
0.776 0.160 10 87961119 splice donor variant G/A;C snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
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: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 7 1997 2015
dbSNP: rs1114167640
rs1114167640
PTEN
0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1064793345
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 2 2012 2012
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: rs863224909
rs863224909
PTEN
0.732 0.360 10 87960952 stop gained C/A;G snv
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: 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: rs121909228
rs121909228
PTEN
0.790 0.160 10 87957984 stop gained G/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
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: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
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: 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: rs121909227
rs121909227
PTEN
0.776 0.240 10 87957858 stop gained C/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor 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: rs138336847
rs138336847
PTEN
0.790 0.160 10 87952264 splice region variant G/A;C snv 4.0E-06
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
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: 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
dbSNP: rs1114167622
rs1114167622
PTEN
0.790 0.160 10 87952260 splice donor variant G/C snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs121909232
rs121909232
PTEN
0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 5 1975 2014
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: 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: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 5 2007 2017