PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1196489060
rs1196489060 		4 16018318 splice region variant C/T snv 4.0E-06 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1210104601
rs1210104601 		1.000 0.080 4 16038959 frameshift variant -/T delins 1.4E-05
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1300041533
rs1300041533 		1.000 0.040 4 15992281 frameshift variant AT/- delins 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.700 0
dbSNP: rs137853005
rs137853005 		0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1560449207
rs1560449207 		1.000 0.200 4 16000612 stop gained C/A snv
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201644238
rs201644238 		1.000 0.080 4 15994044 stop gained G/A;T snv 2.0E-05; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs530749007
rs530749007 		1.000 0.080 4 15989758 stop gained G/A;C snv 8.3E-06; 8.3E-06
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs543698823
rs543698823 		0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs543698823
rs543698823 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs746174328
rs746174328 		1.000 0.080 4 16009072 frameshift variant AT/- delins
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs746174328
rs746174328 		1.000 0.080 4 16009072 frameshift variant AT/- delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs747512450
rs747512450 		1.000 0.040 4 16075768 frameshift variant G/- delins 2.8E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.700 0
dbSNP: rs762078182
rs762078182 		4 15994057 frameshift variant T/-;TT delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs766246531
rs766246531 		1.000 0.080 4 16025200 frameshift variant T/- delins 3.2E-05 3.5E-05
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs775957498
rs775957498 		1.000 0.080 4 16008947 splice donor variant A/G snv 3.3E-05 3.5E-05
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs780697796
rs780697796 		1.000 0.080 4 16033377 stop gained G/A;T snv 1.2E-05; 8.0E-06
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs878853400
rs878853400 		4 15984327 frameshift variant G/- delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs886037612
rs886037612 		1.000 0.080 4 15992318 frameshift variant C/- delins
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886037880
rs886037880 		0.925 0.080 4 16009093 stop gained A/T snv 7.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886037880
rs886037880 		0.925 0.080 4 16009093 stop gained A/T snv 7.0E-06
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886037881
rs886037881 		0.925 0.080 4 15984366 intron variant ACAGGGAAAC/- delins
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886037881
rs886037881 		0.925 0.080 4 15984366 intron variant ACAGGGAAAC/- delins
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs137853005
rs137853005 		0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2007 2007
dbSNP: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2008 2008
dbSNP: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2008 2008