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: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.100 0.917 12 2006 2018
dbSNP: rs767833468
rs767833468 		1.000 0.080 4 99618993 missense variant G/A snv 4.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 8 1996 2015
dbSNP: rs1367079155
rs1367079155 		1.000 0.080 4 99594764 missense variant G/C snv 4.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1996 2015
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.070 1.000 7 2006 2019
dbSNP: rs199422221
rs199422221 		1.000 0.080 4 99619094 missense variant A/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2000 2013
dbSNP: rs199422222
rs199422222 		1.000 0.080 4 99608977 missense variant G/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2003 2013
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.030 1.000 3 2009 2017
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.030 1.000 3 2009 2017
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase 		Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.030 0.667 3 2006 2014
dbSNP: rs755681036
rs755681036 		1.000 0.080 4 99613134 frameshift variant T/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1995 2008
dbSNP: rs1412189378
rs1412189378 		1.000 0.040 4 99583404 missense variant C/A snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1560614646
rs1560614646 		1.000 0.080 4 99583431 stop gained A/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1560621495
rs1560621495 		1.000 0.080 4 99601674 missense variant T/A snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2306986
rs2306986 		1.000 0.040 4 99583418 missense variant G/C;T snv 5.9E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0677936
Disease: Refractory cancer
Refractory cancer 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs767606327
rs767606327 		4 99613118 missense variant T/C;G snv 1.2E-05; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs767606327
rs767606327 		4 99613118 missense variant T/C;G snv 1.2E-05; 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1553926818
rs1553926818 		1.000 0.080 4 99591735 frameshift variant CA/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553927840
rs1553927840 		1.000 0.080 4 99608764 splice acceptor variant A/G snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1560614154
rs1560614154 		1.000 0.080 4 99582057 frameshift variant C/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1560621444
rs1560621444 		1.000 0.080 4 99601606 splice acceptor variant G/A snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs781469754
rs781469754 		1.000 0.040 4 99591691 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs752100893
rs752100893 		1.000 4 99581913 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia 		0.010 1.000 1 2010 2010