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: rs5770917
rs5770917 		0.925 0.080 22 50578924 intron variant T/C snv 6.0E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.840 0.750 4 2008 2014
dbSNP: rs131758
rs131758 		22 50578653 3 prime UTR variant T/A snv 0.60
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs140514
rs140514 		22 50580150 intron variant A/G snv 0.44 0.38
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs140515
rs140515 		22 50576781 non coding transcript exon variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1555894289
rs1555894289 		1.000 0.120 22 50579509 splice acceptor variant T/A;C snv
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs470117
rs470117 		1.000 0.040 22 50571524 missense variant C/T snv 0.42 0.36
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1333100080
rs1333100080 		1.000 0.120 22 50581796 stop gained G/A snv 4.0E-06
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569054086
rs1569054086 		1.000 0.120 22 50581814 stop gained C/A snv
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569054508
rs1569054508 		1.000 0.120 22 50582314 frameshift variant G/- delins
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387907068
rs387907068 		1.000 0.120 22 50582666 stop gained G/A;T snv
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387907069
rs387907069 		1.000 0.120 22 50579979 stop gained G/A snv
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs750764003
rs750764003 		1.000 0.120 22 50580198 stop gained A/G;T snv 8.0E-06; 8.0E-06
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786205117
rs786205117 		1.000 0.120 22 50581542 frameshift variant -/A delins
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786205118
rs786205118 		1.000 0.120 22 50580564 splice donor variant C/T snv
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs146163970
rs146163970 		1.000 0.120 22 50582319 missense variant G/A snv 3.0E-04 2.4E-04
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2269383
rs2269383 		1.000 0.040 22 50574346 missense variant C/T snv 2.6E-02 3.6E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3213445
rs3213445 		0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3213445
rs3213445 		0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3213445
rs3213445 		0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3213445
rs3213445 		0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs470117
rs470117 		1.000 0.040 22 50571524 missense variant C/T snv 0.42 0.36
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs5770917
rs5770917 		0.925 0.080 22 50578924 intron variant T/C snv 6.0E-02
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs754889760
rs754889760 		1.000 0.080 22 50571440 missense variant T/C snv 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs763993653
rs763993653 		1.000 0.120 22 50579808 missense variant A/T snv 4.0E-06
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016