MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
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: rs267607940
rs267607940 		0.851 0.240 2 47416430 splice donor variant G/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: rs267607970
rs267607970 		0.925 0.200 2 47470964 splice acceptor variant G/A 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: rs267607990
rs267607990 		1.000 0.160 2 47476362 splice region variant T/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 0
dbSNP: rs587779190
rs587779190 		0.851 0.240 2 47414344 stop gained G/C;T 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 0
dbSNP: rs63749849
rs63749849 		0.851 0.240 2 47429812 stop gained 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
dbSNP: rs63750508
rs63750508 		0.851 0.240 2 47475126 stop gained C/G;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: rs63750636
rs63750636 		0.851 0.240 2 47476492 stop gained C/T snv 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 0.700 0
dbSNP: rs63750875
rs63750875 		0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-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: rs63751108
rs63751108 		0.827 0.240 2 47429881 stop gained 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
dbSNP: rs63751449
rs63751449 		0.925 0.200 2 47410178 frameshift variant A/-;AA 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: rs17217772
rs17217772 		0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4987188
rs4987188 		0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.010 1.000 1 2008 2008