ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
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: rs761129859
rs761129859
0.925 0.120 1 161821166 splice region variant G/A;C snv 4.3E-06
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs761357250
rs761357250
0.925 0.120 1 161819693 missense variant C/T snv 1.6E-05 5.6E-05
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs796065053
rs796065053
0.925 0.120 1 161863292 missense variant T/A snv
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs797045170
rs797045170
0.925 0.120 1 161766447 splice region variant G/A;T snv 4.0E-06
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs797045171
rs797045171
0.925 0.120 1 161784094 frameshift variant C/- delins
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs797045172
rs797045172
0.925 0.120 1 161853324 splice donor variant G/C snv 4.0E-06
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs797045173
rs797045173
0.925 0.120 1 161802157 frameshift variant -/C delins
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs797045174
rs797045174
0.925 0.120 1 161821081 frameshift variant -/A delins
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1553227755
rs1553227755
1.000 0.120 1 161781910 splice region variant -/G delins
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs765383904
rs765383904
1.000 0.120 1 161791469 frameshift variant -/T delins
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0