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: rs16916239
rs16916239 		8 86631513 intron variant A/G snv 0.16
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs28451864
rs28451864 		8 86667549 intron variant T/A snv 0.55
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs397515360
rs397515360 		0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 6 2003 2017
dbSNP: rs397515360
rs397515360 		0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2000 2019
dbSNP: rs147876778
rs147876778 		0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		Eye Diseases 0.020 1.000 2 2004 2018
dbSNP: rs397515360
rs397515360 		0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 2 2000 2019
dbSNP: rs147876778
rs147876778 		0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs147876778
rs147876778 		0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs147876778
rs147876778 		0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs147876778
rs147876778 		0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs397515360
rs397515360 		0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2000 2000
dbSNP: rs397515360
rs397515360 		0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs397515360
rs397515360 		0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs397515360
rs397515360 		0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2000 2000
dbSNP: rs147876778
rs147876778 		0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515360
rs397515360 		0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs775796581
rs775796581 		0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2000 2017
dbSNP: rs775796581
rs775796581 		0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2000 2000
dbSNP: rs775796581
rs775796581 		0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.700 0
dbSNP: rs775796581
rs775796581 		0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs775796581
rs775796581 		0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs139207764
rs139207764 		0.925 0.120 8 86670970 missense variant G/A snv 5.2E-05 4.9E-05
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 10 2000 2017
dbSNP: rs121918344
rs121918344 		0.925 0.120 8 86632768 missense variant G/A snv
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 7 2000 2017
dbSNP: rs773372519
rs773372519 		0.925 0.120 8 86644689 splice region variant A/C;G snv 1.3E-05; 8.9E-06
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 6 2004 2017
dbSNP: rs373862340
rs373862340 		0.925 0.120 8 86644671 stop gained C/A snv 3.7E-05 2.8E-05
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2000 2017