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: 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: 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: 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: rs745557293
rs745557293 		1.000 0.120 8 86578855 frameshift variant A/- delins 8.0E-06 2.1E-05
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs773372519
rs773372519 		0.925 0.120 8 86644689 splice region variant A/C;G snv 1.3E-05; 8.9E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
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: rs776896038
rs776896038 		1.000 0.120 8 86632787 frameshift variant A/-;AA delins 4.0E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		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
dbSNP: rs1052078370
rs1052078370 		1.000 0.120 8 86739658 stop gained G/A;C snv 4.2E-06; 4.2E-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: rs1057516825
rs1057516825 		1.000 0.120 8 86628918 splice donor variant C/T 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: rs1174949911
rs1174949911 		1.000 0.120 8 86668019 missense variant C/G;T 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: rs1189928623
rs1189928623 		1.000 0.120 8 86666971 missense variant A/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: rs1201521544
rs1201521544 		1.000 0.120 8 86666924 splice donor variant C/A;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: rs1362472371
rs1362472371 		1.000 0.120 8 86579219 frameshift variant A/- del 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: rs1375507464
rs1375507464 		1.000 0.120 8 86604092 splice donor variant C/G;T 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: 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: rs1391492794
rs1391492794 		1.000 0.120 8 86668017 splice donor variant A/G 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: rs1442286151
rs1442286151 		1.000 0.120 8 86743598 frameshift variant -/T delins 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: 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: 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: rs1554604552
rs1554604552 		1.000 0.120 8 86576013 frameshift variant C/- 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: rs1554604767
rs1554604767 		0.925 0.120 8 86578688 splice donor variant C/T 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: rs1554604833
rs1554604833 		1.000 0.120 8 86579211 missense variant A/T 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