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: rs10254120
rs10254120 		0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10254120
rs10254120 		0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs10254120
rs10254120 		0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs10254120
rs10254120 		0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10254120
rs10254120 		0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1057515571
rs1057515571 		1.000 0.160 7 5995591 frameshift variant C/- delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057515572
rs1057515572 		0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.700 1.000 1 2007 2007
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: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 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: 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: rs1057517801
rs1057517801 		7 5987022 frameshift variant T/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517801
rs1057517801 		7 5987022 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1057524433
rs1057524433 		7 5982858 stop gained G/A snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1059060
rs1059060 		0.925 0.040 7 5977709 missense variant T/A;C snv
CUI: C0028960
Disease: Oligospermia
Oligospermia 		Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1059060
rs1059060 		0.925 0.040 7 5977709 missense variant T/A;C snv
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1059060
rs1059060 		0.925 0.040 7 5977709 missense variant T/A;C snv
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1060503110
rs1060503110 		7 5978679 stop gained A/C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1060503110
rs1060503110 		7 5978679 stop gained A/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.900 10 2008 2019
dbSNP: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.090 0.889 9 2007 2019
dbSNP: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.070 0.857 7 2012 2019