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: 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: 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
dbSNP: rs146434364
rs146434364 		0.882 0.040 4 15980426 missense variant C/T snv 7.5E-05 9.8E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs146434364
rs146434364 		0.882 0.040 4 15980426 missense variant C/T snv 7.5E-05 9.8E-05
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2010 2017