ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Disease: Achromatopsia ×
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: 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