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: rs397515359
rs397515359
0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1207247951
rs1207247951
0.882 0.200 11 17517465 frameshift variant C/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0