RPGRIP1, RPGR interacting protein 1, 57096

N. diseases: 121; N. variants: 36
Source: ALL
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: rs1555302200
rs1555302200
0.925 0.120 14 21326029 frameshift variant -/TT delins
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus
Eye Diseases; Nervous System Diseases 0.700 0