rs543698823, PROM1

N. diseases: 4
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.
CONE-ROD DYSTROPHY 12 (disorder)
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
6 0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 0.700 1.000 2 1999 2009
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 0.700 1.000 1 2009 2009
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 0.700 0
RETINITIS PIGMENTOSA 41 (disorder)
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
7 0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 0.700 0