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: rs1006310
rs1006310 		1 161841765 intron variant T/C;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs1027700
rs1027700 		1.000 0.080 1 161787246 intron variant A/T snv 0.21
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10918137
rs10918137 		1 161892765 intron variant G/A snv 0.49
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs11576878
rs11576878 		1.000 0.080 1 161805787 intron variant A/G snv 0.21
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11581556
rs11581556 		1.000 0.080 1 161823822 intron variant G/A snv 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12124509
rs12124509 		1 161897699 intron variant G/A snv 0.49
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
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: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
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
dbSNP: rs2340721
rs2340721 		1 161879595 intron variant A/C snv 0.49
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs4657121
rs4657121 		1.000 0.080 1 161913293 intron variant G/A snv 0.21
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7519514
rs7519514 		1 161769400 intron variant A/G snv 0.49
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
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