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: rs13278062
rs13278062 		0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.830 1.000 4 2011 2019
dbSNP: rs79037040
rs79037040 		0.807 0.160 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs79037040
rs79037040 		0.807 0.160 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs79037040
rs79037040 		0.807 0.160 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs79037040
rs79037040 		0.807 0.160 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs20576
rs20576 		0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 1.000 5 2006 2014
dbSNP: rs20575
rs20575 		0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2009 2015
dbSNP: rs20575
rs20575 		0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2009 2015
dbSNP: rs20576
rs20576 		0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2009 2014
dbSNP: rs20575
rs20575 		0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2012 2019
dbSNP: rs20576
rs20576 		0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2012 2019
dbSNP: rs2230229
rs2230229 		0.807 0.120 8 23191779 missense variant C/T snv 0.88 0.86
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2009 2014
dbSNP: rs2230229
rs2230229 		0.807 0.120 8 23191779 missense variant C/T snv 0.88 0.86
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2009 2014
dbSNP: rs20575
rs20575 		0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2005 2012
dbSNP: rs20575
rs20575 		0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2005 2012
dbSNP: rs20576
rs20576 		0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2005 2012
dbSNP: rs20576
rs20576 		0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2005 2012
dbSNP: rs20576
rs20576 		0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2008 2013
dbSNP: rs20576
rs20576 		0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2008 2013
dbSNP: rs11775256
rs11775256 		1.000 0.080 8 23193972 intron variant C/T snv 0.21
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs13278062
rs13278062 		0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs13278062
rs13278062 		0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs13278062
rs13278062 		0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs13278062
rs13278062 		0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs13278062
rs13278062 		0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018