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: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1837650
Disease: Lack of spontaneous play
Lack of spontaneous play 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0239815
Disease: Hand clenching
Hand clenching 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0024636
Disease: Malocclusion
Malocclusion 		Stomatognathic Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.700 0
dbSNP: rs193922615
rs193922615 		12 2688693 missense variant G/A;T snv 4.1E-06; 1.2E-05
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.700 0
dbSNP: rs193922616
rs193922616 		12 2691089 missense variant G/A;T snv 8.2E-06
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.700 0
dbSNP: rs587782933
rs587782933 		0.827 0.200 12 2504526 missense variant G/A snv
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs730880056
rs730880056 		1.000 0.200 12 2593261 missense variant G/A;C snv 1.2E-05
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.700 0
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs7297582
rs7297582 		0.925 0.040 12 2246640 intron variant C/T snv 0.29
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 < 0.001 1 2013 2013
dbSNP: rs794727587
rs794727587 		1.000 0.200 12 2665600 missense variant C/G snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.710 < 0.001 1 2012 2012
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.020 0.500 2 2010 2010
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.020 0.500 2 2010 2010
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.020 0.500 2 2010 2010
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.900 0.917 12 2010 2016
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.900 0.964 28 2008 2019
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.900 1.000 28 2010 2019
dbSNP: rs79891110
rs79891110 		0.807 0.320 12 2504944 stop gained G/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 12 2004 2016
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.070 1.000 7 2010 2014
dbSNP: rs2007044
rs2007044 		0.882 0.040 12 2235794 intron variant A/G snv 0.50
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.710 1.000 7 2014 2019