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: rs749537392
rs749537392
1.000 0.040 1 161819741 missense variant G/A;C snv 2.4E-05 7.0E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
Eye Diseases 0.700 0