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: rs121434631
rs121434631
0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
Eye Diseases 0.010 1.000 1 2013 2013