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: rs1057516571
rs1057516571 		1.000 0.120 8 86579126 frameshift variant C/- delins
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516782
rs1057516782 		1.000 0.120 8 86739702 frameshift variant -/T delins
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516791
rs1057516791 		1.000 0.120 8 86671025 frameshift variant T/- delins 4.0E-06
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516866
rs1057516866 		1.000 0.120 8 86632812 frameshift variant A/- delins
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517052
rs1057517052 		1.000 0.120 8 86668095 frameshift variant C/- delins
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517053
rs1057517053 		1.000 0.120 8 86668103 frameshift variant CCTG/- delins
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517167
rs1057517167 		1.000 0.120 8 86632895 splice acceptor variant T/A snv
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517388
rs1057517388 		1.000 0.120 8 86578865 splice acceptor variant T/C snv
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517434
rs1057517434 		1.000 0.120 8 86726648 frameshift variant AG/- delins
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517454
rs1057517454 		1.000 0.120 8 86579104 splice donor variant A/G snv
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs114305748
rs114305748 		1.000 0.120 8 86668067 missense variant C/G;T snv 2.4E-05; 4.6E-03
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
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: rs1554604767
rs1554604767 		0.925 0.120 8 86578688 splice donor variant C/T snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0
dbSNP: rs1554604775
rs1554604775 		1.000 0.120 8 86578784 stop gained C/A snv
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554609943
rs1554609943 		1.000 0.120 8 86625981 splice donor variant G/C snv
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554609978
rs1554609978 		1.000 0.120 8 86626082 splice acceptor variant T/G snv
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554614402
rs1554614402 		1.000 0.120 8 86670990 frameshift variant CTT/A delins
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs16916632
rs16916632 		1.000 0.120 8 86668054 missense variant C/T snv 1.5E-02 5.0E-02
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs192448853
rs192448853 		1.000 0.120 8 86578706 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200805087
rs200805087 		1.000 0.120 8 86579224 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200805087
rs200805087 		1.000 0.120 8 86579224 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		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: rs35365413
rs35365413 		0.925 0.120 8 86628994 missense variant A/C;T snv 5.9E-04; 4.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 0