PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Lhermitte-Duclos disease ×
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: rs1554897889
rs1554897889 		0.790 0.160 10 87931094 splice region variant G/A;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1554898242
rs1554898242 		0.790 0.160 10 87933252 splice donor variant G/T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1554900675
rs1554900675 		0.790 0.160 10 87952263 splice region variant A/T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs587781784
rs587781784 		0.790 0.160 10 87952116 splice acceptor variant A/C;G;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs727504114
rs727504114 		0.790 0.160 10 87952261 splice donor variant T/C;G snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs786203847
rs786203847 		0.790 0.160 10 87925512 splice acceptor variant G/A;C snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1060500126
rs1060500126 		0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1114167640
rs1114167640 		0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121909221
rs121909221 		0.790 0.160 10 87952135 missense variant T/A snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121909223
rs121909223 		0.790 0.160 10 87933129 missense variant T/C;G snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121909225
rs121909225 		0.790 0.160 10 87894049 missense variant T/C;G snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121909226
rs121909226 		0.790 0.160 10 87925557 missense variant T/C snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121909228
rs121909228 		0.790 0.160 10 87957984 stop gained G/T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121909241
rs121909241 		0.790 0.160 10 87933154 missense variant G/A;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554825165
rs1554825165 		0.790 0.160 10 87957872 stop gained C/A snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554825530
rs1554825530 		0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554825643
rs1554825643 		0.790 0.160 10 87961107 frameshift variant C/- delins
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554898083
rs1554898083 		0.790 0.160 10 87933057 frameshift variant -/T delins
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554898085
rs1554898085 		0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554898244
rs1554898244 		0.790 0.160 10 87933253 splice donor variant T/C;G snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs397515374
rs397515374 		0.790 0.160 10 87952159 stop gained TA/AT mnv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs398123317
rs398123317 		0.790 0.160 10 87925550 missense variant T/A;C;G snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587776666
rs587776666 		0.790 0.160 10 87933106 frameshift variant ACAAT/- del
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587776669
rs587776669 		0.790 0.160 10 87957914 frameshift variant A/- del
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0