CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
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: rs1555968874
rs1555968874
0.925 0.040 X 86027530 inframe deletion AGC/- delins
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
Eye Diseases 0.700 0