rs727504075, PDE6B

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 4 664945 splice donor variant G/A;T snv 7.2E-05; 4.0E-06 0.700 1.000 3 1995 2019
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
22 0.925 0.080 4 664945 splice donor variant G/A;T snv 7.2E-05; 4.0E-06 0.700 0