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: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2008 2014
dbSNP: rs1057515572
rs1057515572 		0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 1.000 1 2007 2007
dbSNP: rs1057515572
rs1057515572 		0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs1057515572
rs1057515572 		0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 1.000 1 2007 2007
dbSNP: rs1057515572
rs1057515572 		0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 1 2007 2007
dbSNP: rs1057515572
rs1057515572 		0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2007 2007
dbSNP: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C4523846
Disease: MSI-high
MSI-high 		0.010 1.000 1 2015 2015
dbSNP: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp 		0.010 1.000 1 2013 2013
dbSNP: rs371402182
rs371402182 		1.000 7 5999167 missense variant A/G snv
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity 		0.010 1.000 1 2016 2016
dbSNP: rs869312801
rs869312801 		0.882 0.160 7 5987062 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C4523846
Disease: MSI-high
MSI-high 		0.010 1.000 1 2013 2013
dbSNP: rs121434629
rs121434629 		0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06
CUI: C1707251
Disease: Cancer Other
Cancer Other 		0.700 0
dbSNP: rs529613640
rs529613640 		1.000 7 6009468 stop gained C/A;T snv 4.3E-06; 4.3E-06
CUI: C4693912
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 17
LEUKODYSTROPHY, HYPOMYELINATING, 17 		0.700 0
dbSNP: rs587782710
rs587782710 		1.000 7 5997376 frameshift variant GGAGTCAC/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1805323
rs1805323 		0.925 0.160 7 5987311 missense variant G/A;T snv 4.0E-06; 8.0E-02
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs63751422
rs63751422 		0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		Cardiovascular Diseases 0.700 0
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: 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: 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