PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Disease: Retinal Dystrophies ×
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: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.710 1.000 2 2008 2010
dbSNP: rs137853005
rs137853005 		0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137853907
rs137853907 		4 16000517 stop gained G/T snv 2.8E-05 8.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2011 2011
dbSNP: rs372513650
rs372513650 		4 15998489 splice acceptor variant C/G snv 3.0E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs373331232
rs373331232 		4 16023380 stop gained G/A;C snv 1.7E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs543698823
rs543698823 		0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2009 2009
dbSNP: rs780697796
rs780697796 		1.000 0.080 4 16033377 stop gained G/A;T snv 1.2E-05; 8.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2015 2015
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: 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: rs762078182
rs762078182 		4 15994057 frameshift variant T/-;TT delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		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