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
Retinitis punctata albescens (disorder)
Eye Diseases 0.710 1.000 1 2001 2001
dbSNP: rs28933990
rs28933990
0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06
Retinitis punctata albescens (disorder)
Eye Diseases 0.710 1.000 1 2012 2012
dbSNP: rs1567124404
rs1567124404
0.925 0.080 15 89218627 frameshift variant T/- delins
Retinitis punctata albescens (disorder)
Eye Diseases 0.700 0
dbSNP: rs786205626
rs786205626
0.925 0.080 15 89217169 inframe deletion GCAGGAAGAAGC/- delins
Retinitis punctata albescens (disorder)
Eye Diseases 0.700 0
dbSNP: rs137853291
rs137853291
0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05
Retinitis punctata albescens (disorder)
Eye Diseases 0.700 0