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: rs104894270
rs104894270
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
Eye Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28939714
rs28939714
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
Eye Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013