Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs543698823
rs543698823
PROM1
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 1.000 2 1999 2009
dbSNP: rs543698823
rs543698823
PROM1
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2009 2009
dbSNP: rs543698823
rs543698823
PROM1
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs543698823
rs543698823
PROM1
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		0.700 0