rs199740930, EYS

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 6 65057613 splice donor variant C/T snv 7.4E-04 3.4E-04 0.700 1.000 1 2019 2019
Retinitis Pigmentosa 25
CUI: C1864446
Disease: Retinitis Pigmentosa 25
48 0.925 0.080 6 65057613 splice donor variant C/T snv 7.4E-04 3.4E-04 0.700 0