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: rs137853290
rs137853290
0.882 0.040 15 89215133 missense variant C/G;T snv 8.0E-06; 8.0E-06
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy
Eye Diseases 0.010 1.000 1 2001 2001