rs139444207, PDE6A

N. diseases: 1
Source: CLINVAR ×
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
420 0.925 0.080 5 149895206 missense variant G/T snv 1.2E-04 1.5E-04 0.700 1.000 2 1999 2010