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: rs886063161
rs886063161 		1.000 0.120 8 86654019 frameshift variant TTTGTAGAAGT/A;T delins
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: rs1554614024
rs1554614024 		1.000 0.120 8 86667071 frameshift variant TAAAA/AAAAAC delins
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: rs1554604851
rs1554604851 		1.000 0.120 8 86579254 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 1.000 1 2017 2017
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: rs369138501
rs369138501 		1.000 0.120 8 86670995 missense variant T/C snv 4.0E-06
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 6 2000 2005
dbSNP: rs1385347376
rs1385347376 		1.000 0.120 8 86643875 splice acceptor variant T/C snv 4.0E-06
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: rs772725807
rs772725807 		1.000 0.120 8 86611673 splice acceptor variant T/C snv 4.0E-06
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: 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: rs1554609956
rs1554609956 		1.000 0.120 8 86626027 frameshift variant T/AC delins
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: rs1554614022
rs1554614022 		1.000 0.120 8 86667071 frameshift variant T/AA delins
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: rs1554612159
rs1554612159 		1.000 0.120 8 86647889 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 1.000 1 2017 2017
dbSNP: rs1554614157
rs1554614157 		1.000 0.120 8 86668170 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 1.000 1 2017 2017
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: 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: rs1554604525
rs1554604525 		1.000 0.120 8 86575875 frameshift variant T/- del
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: 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: rs1554613998
rs1554613998 		1.000 0.120 8 86666983 frameshift variant GTAG/- delins
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: rs1554618413
rs1554618413 		1.000 0.120 8 86726585 frameshift variant GGTT/- delins
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: rs1554614423
rs1554614423 		1.000 0.120 8 86671043 frameshift variant GC/TCACCAGGA delins
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: rs1554612805
rs1554612805 		1.000 0.120 8 86654033 stop gained G/C snv
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: rs371318766
rs371318766 		1.000 0.120 8 86667021 stop gained G/C snv 4.0E-06 7.0E-06
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: 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: rs764742792
rs764742792 		1.000 0.120 8 86643866 stop gained G/A;T snv 2.0E-05; 4.0E-06
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2005 2017
dbSNP: rs376711003
rs376711003 		1.000 0.120 8 86743617 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs267606739
rs267606739 		1.000 0.120 8 86668055 stop gained G/A;C;T snv 2.8E-05; 4.0E-06
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2000 2017