AURKA, aurora kinase A, 6790

N. diseases: 245; N. variants: 15
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: rs2180691
rs2180691 		20 56389305 intron variant G/A snv 0.44
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs6024836
rs6024836 		0.851 0.160 20 56369012 downstream gene variant G/A snv 0.42
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C4016820
Disease: COLON CANCER, SUSCEPTIBILITY TO
COLON CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.800 20 2004 2018
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.789 19 2004 2018
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2004 2017
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2004 2017
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 1.000 5 2007 2017
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2013 2017
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2014 2017
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2014 2017
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2006 2019
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2006 2019
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2007 2015
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2006 2018
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2004 2013
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2004 2013
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2007 2015
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2004 2013
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2007 2015
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2007 2015
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2017 2018
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2007 2015
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2007 2015
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2016 2018