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: 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
dbSNP: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		Eye Diseases 0.800 1.000 1 2008 2008
dbSNP: rs2531154
rs2531154 		1.000 0.040 4 16016701 intron variant C/T snv 0.89
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.720 1.000 3 2010 2019
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: rs543698823
rs543698823 		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) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 1999 2009
dbSNP: rs116130729
rs116130729 		1.000 0.080 4 16011163 intron variant C/T snv 1.6E-02
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
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: 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: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2019 2019
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: rs17387100
rs17387100 		0.925 0.040 4 15993502 intron variant A/G snv 7.5E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs17387100
rs17387100 		0.925 0.040 4 15993502 intron variant A/G snv 7.5E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs17387100
rs17387100 		0.925 0.040 4 15993502 intron variant A/G snv 7.5E-02
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
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: rs796051882
rs796051882 		1.000 0.080 4 15988237 intron variant T/C snv 7.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2016 2016
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