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: rs741013
rs741013 		3 64306961 intron variant A/T snv 6.0E-02
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.800 1.000 1 2013 2013
dbSNP: rs17404667
rs17404667 		3 64288876 intron variant C/G snv 6.2E-02
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs202170644
rs202170644 		1.000 0.040 3 64147176 missense variant C/G snv 4.7E-04 6.3E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs27387
rs27387 		1.000 0.080 3 64163491 non coding transcript exon variant A/G snv 0.91
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs387906989
rs387906989 		1.000 0.160 3 64099773 missense variant C/A snv 1.2E-05 4.2E-05
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6803651
rs6803651 		3 64446054 intron variant G/C;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs696021
rs696021 		0.925 0.040 3 64207886 intron variant T/A;G snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs696021
rs696021 		0.925 0.040 3 64207886 intron variant T/A;G snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs864089
rs864089 		0.882 0.120 3 64258442 intron variant T/C snv 0.22
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs864089
rs864089 		0.882 0.120 3 64258442 intron variant T/C snv 0.22
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs864089
rs864089 		0.882 0.120 3 64258442 intron variant T/C snv 0.22
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs139747674
rs139747674 		1.000 0.040 3 64157305 missense variant C/T snv 1.3E-03 1.2E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2013 2013