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: rs1554611860
rs1554611860 		1.000 0.120 8 86644671 frameshift variant -/A 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: rs748993388
rs748993388 		1.000 0.120 8 86670990 frameshift variant -/A ins 4.0E-06; 1.2E-05
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1554607548
rs1554607548 		1.000 0.120 8 86604099 frameshift variant -/C delins
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2013 2016
dbSNP: rs1554614038
rs1554614038 		1.000 0.120 8 86667094 frameshift variant -/C 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: rs1554619509
rs1554619509 		1.000 0.120 8 86743596 frameshift variant -/C 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: rs1554609946
rs1554609946 		1.000 0.120 8 86625991 frameshift variant -/GTCG 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: 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: rs1554619500
rs1554619500 		1.000 0.120 8 86743532 frameshift variant -/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: 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: 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: rs773381712
rs773381712 		1.000 0.120 8 86626068 frameshift variant A/- delins 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 1.000 1 2017 2017
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: 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: rs776896038
rs776896038 		1.000 0.120 8 86632787 frameshift variant A/-;AA delins 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: 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: rs964530890
rs964530890 		1.000 0.120 8 86604216 splice region variant A/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: 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: rs775038513
rs775038513 		1.000 0.120 8 86632878 stop gained A/C;G 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: 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: rs35365413
rs35365413 		0.925 0.120 8 86628994 missense variant A/C;T snv 5.9E-04; 4.4E-05
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: rs373270306
rs373270306 		1.000 0.120 8 86628952 missense variant A/C;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: rs6471482
rs6471482 		1.000 0.120 8 86667075 stop gained A/C;T snv 0.89 0.89
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: 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
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: 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