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: rs220558
rs220558 		12 13795131 intron variant G/A snv 0.42
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2268118
rs2268118 		12 13719110 intron variant G/A;T snv
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2268127
rs2268127 		12 13787914 intron variant T/C snv 0.26
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs28621435
rs28621435 		12 13708056 intron variant G/A snv 7.4E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs7303541
rs7303541 		1.000 0.040 12 13452306 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7310354
rs7310354 		1.000 0.040 12 13456506 intron variant T/C snv 0.90
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs879253931
rs879253931 		0.925 12 13567084 stop gained G/A snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 1.000 1 2016 2016
dbSNP: rs879253931
rs879253931 		0.925 12 13567084 stop gained G/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 1.000 1 2016 2016
dbSNP: rs984895
rs984895 		1.000 0.040 12 13454884 intron variant C/G snv 0.65
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1057518700
rs1057518700 		1.000 12 13608792 stop gained C/G;T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1057518800
rs1057518800 		12 13567228 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518800
rs1057518800 		12 13567228 missense variant C/T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 0
dbSNP: rs1057518988
rs1057518988 		0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518988
rs1057518988 		0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs1057518988
rs1057518988 		0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519553
rs1057519553 		1.000 12 13866166 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs1057519611
rs1057519611 		1.000 12 13865797 splice donor variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1057519612
rs1057519612 		1.000 12 13567265 splice acceptor variant T/C snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1060499526
rs1060499526 		1.000 12 13753523 frameshift variant GT/- delins
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1060499659
rs1060499659 		1.000 12 13615170 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs1135401799
rs1135401799 		1.000 12 13608647 stop gained G/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs1555103646
rs1555103646 		1.000 0.040 12 13569964 missense variant C/A snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555103646
rs1555103646 		1.000 0.040 12 13569964 missense variant C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555103646
rs1555103646 		1.000 0.040 12 13569964 missense variant C/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555103646
rs1555103646 		1.000 0.040 12 13569964 missense variant C/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0