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: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		Eye Diseases 0.800 1.000 1 2008 2008
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: 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: 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: 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: rs371887194
rs371887194 		4 16018477 missense variant T/C snv 9.3E-05 7.0E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
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: 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: 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: 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: rs2240688
rs2240688 		0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2240688
rs2240688 		0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2286455
rs2286455 		1.000 0.080 4 16018539 splice region variant C/T snv 0.14 9.9E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2286455
rs2286455 		1.000 0.080 4 16018539 splice region variant C/T snv 0.14 9.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3130
rs3130 		0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs3130
rs3130 		0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3130
rs3130 		0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
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: 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