PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Proteus-Like Syndrome (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909224
rs121909224 		0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 4 1997 2013
dbSNP: rs121909231
rs121909231 		0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 7 1997 2015
dbSNP: rs121909218
rs121909218 		0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909229
rs121909229 		0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909219
rs121909219 		0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913293
rs121913293 		0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 5 2007 2017
dbSNP: rs863224909
rs863224909 		0.732 0.360 10 87960952 stop gained C/A;G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776667
rs587776667 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121909222
rs121909222 		0.742 0.240 10 87933127 missense variant A/G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs1224040268
rs1224040268 		0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs370795352
rs370795352 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs1064793345
rs1064793345 		0.752 0.240 10 87961039 missense variant T/C snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 2 2012 2012
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1085308043
rs1085308043 		0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs587782350
rs587782350 		0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 8 1999 2017
dbSNP: rs121909232
rs121909232 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 5 1975 2014
dbSNP: rs398123318
rs398123318 		0.776 0.240 10 87925558 splice region variant AGTA/- delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs786201041
rs786201041 		0.776 0.160 10 87961119 splice donor variant G/A;C snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs876661024
rs876661024 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121909227
rs121909227 		0.776 0.240 10 87957858 stop gained C/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs1114167621
rs1114167621 		0.790 0.160 10 87931045 splice acceptor variant G/A;C;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1114167622
rs1114167622 		0.790 0.160 10 87952260 splice donor variant G/C snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650 		0.790 0.160 10 87925562 splice region variant G/A snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs138336847
rs138336847 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554897854
rs1554897854 		0.790 0.160 10 87931042 splice acceptor variant AGTT/- delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017