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: rs761357250
rs761357250 		0.925 0.120 1 161819693 missense variant C/T snv 1.6E-05 5.6E-05
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.800 1.000 2 2015 2015
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: rs761129859
rs761129859 		0.925 0.120 1 161821166 splice region variant G/A;C snv 4.3E-06
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		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: rs796065053
rs796065053 		0.925 0.120 1 161863292 missense variant T/A snv
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		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: rs797045170
rs797045170 		0.925 0.120 1 161766447 splice region variant G/A;T snv 4.0E-06
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs797045171
rs797045171 		0.925 0.120 1 161784094 frameshift variant C/- delins
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		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: rs797045172
rs797045172 		0.925 0.120 1 161853324 splice donor variant G/C snv 4.0E-06
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs797045173
rs797045173 		0.925 0.120 1 161802157 frameshift variant -/C delins
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		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: rs797045174
rs797045174 		0.925 0.120 1 161821081 frameshift variant -/A delins
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs2070150
rs2070150 		0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2016
dbSNP: rs2070150
rs2070150 		0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs2070150
rs2070150 		0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs16849542
rs16849542 		0.882 0.120 1 161816705 intron variant A/G snv 2.1E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16849542
rs16849542 		0.882 0.120 1 161816705 intron variant A/G snv 2.1E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018