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: rs10022537
rs10022537 		0.925 0.080 4 16075214 intron variant A/T snv 0.70
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs10022537
rs10022537 		0.925 0.080 4 16075214 intron variant A/T snv 0.70
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1033920857
rs1033920857 		0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1033920857
rs1033920857 		0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.010 1.000 1 2017 2017
dbSNP: rs1033920857
rs1033920857 		0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.020 1.000 2 2010 2017
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: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2010 2017
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: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2019 2019
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: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs137853006
rs137853006 		0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2010 2010
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: rs146434364
rs146434364 		0.882 0.040 4 15980426 missense variant C/T snv 7.5E-05 9.8E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017