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: rs121918302
rs121918302 		1.000 0.080 6 72251007 missense variant G/A;T snv 3.8E-05; 5.4E-06
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 2 2003 2017
dbSNP: rs2463709
rs2463709 		1.000 0.040 6 72155201 intron variant T/C snv 0.60
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs2807510
rs2807510 		0.925 0.040 6 72380835 intron variant G/A snv 3.4E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2807510
rs2807510 		0.925 0.040 6 72380835 intron variant G/A snv 3.4E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1475617034
rs1475617034 		1.000 0.040 6 72182348 missense variant G/A snv 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs759999855
rs759999855 		0.851 0.080 6 72392784 missense variant G/A snv 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs759999855
rs759999855 		0.851 0.080 6 72392784 missense variant G/A snv 4.0E-06
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs759999855
rs759999855 		0.851 0.080 6 72392784 missense variant G/A snv 4.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs759999855
rs759999855 		0.851 0.080 6 72392784 missense variant G/A snv 4.0E-06
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005