Disease: Achromatopsia ×
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: 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: rs201320564
rs201320564 		0.925 0.120 8 86628967 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs373862340
rs373862340 		0.925 0.120 8 86644671 stop gained C/A snv 3.7E-05 2.8E-05
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121918344
rs121918344 		0.925 0.120 8 86632768 missense variant G/A snv
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: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
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: rs201794629
rs201794629 		0.925 0.120 8 86667134 splice acceptor variant C/G snv 4.0E-05 1.4E-05
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs372006750
rs372006750 		0.925 0.120 8 86625982 splice donor variant C/A;T snv 2.0E-05
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; 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: rs786204498
rs786204498 		0.925 0.120 8 86743516 stop gained G/A snv
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0