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: rs2240688
rs2240688 		0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2013 2016
dbSNP: rs2240688
rs2240688 		0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2013 2016
dbSNP: rs2240688
rs2240688 		0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2013 2016
dbSNP: rs2240688
rs2240688 		0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
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: 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: 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: rs3130
rs3130 		0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2015 2017
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: rs3130
rs3130 		0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2017 2017
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: 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