Disease: Turcot 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: rs121434629
rs121434629 		0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.800 0
dbSNP: rs267608161
rs267608161 		0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.710 1.000 6 1995 2016
dbSNP: rs587780062
rs587780062 		0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs63750871
rs63750871 		0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.710 1.000 1 2004 2004
dbSNP: rs587779338
rs587779338 		0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 9 1995 2016
dbSNP: rs188006077
rs188006077 		1.000 0.160 7 6003724 missense variant G/A snv 1.3E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs200726484
rs200726484 		1.000 0.160 7 5987456 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs368516768
rs368516768 		1.000 0.160 7 5987255 missense variant C/G snv 2.8E-05 6.3E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs587779328
rs587779328 		1.000 0.160 7 5987302 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs587779342
rs587779342 		0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs587779345
rs587779345 		0.925 0.200 7 5997342 missense variant G/C snv 4.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs587779346
rs587779346 		1.000 0.160 7 5992040 missense variant A/C snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs63750685
rs63750685 		0.925 0.200 7 5987328 missense variant G/A;C snv 1.6E-05; 4.2E-03
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs769554577
rs769554577 		1.000 0.160 7 6004025 missense variant A/G snv 1.6E-05 4.2E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs886039646
rs886039646 		1.000 0.160 7 5973467 frameshift variant A/- del 2.8E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs1554298082
rs1554298082 		1.000 0.160 7 5987601 frameshift variant A/- del
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1057515572
rs1057515572 		0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs121434630
rs121434630 		1.000 0.160 7 6004003 stop gained A/T snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs200640585
rs200640585 		0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs267608150
rs267608150 		0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs267608160
rs267608160 		0.925 0.200 7 5977669 frameshift variant GAAG/- del
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs587776715
rs587776715 		0.925 0.200 7 5987544 frameshift variant C/- delins
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs587779340
rs587779340 		0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs587780059
rs587780059 		0.882 0.200 7 6009018 start lost A/C;G;T snv 4.0E-06; 4.0E-06; 8.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs587780724
rs587780724 		1.000 0.160 7 5987389 stop gained G/C;T snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0