Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 0.833 6 2004 2017
dbSNP: rs1047972
rs1047972
AURKA
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 		0.060 0.833 6 2004 2017
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.030 1.000 3 2006 2019
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2014 2017
dbSNP: rs1047972
rs1047972
AURKA
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 		0.030 1.000 3 2006 2019
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2014 2017
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 0.500 2 2007 2015
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 0.500 2 2017 2018
dbSNP: rs1047972
rs1047972
AURKA
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 		0.020 0.500 2 2007 2015
dbSNP: rs1047972
rs1047972
AURKA
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 		0.020 0.500 2 2007 2015
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		0.010 1.000 1 2007 2007
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2019 2019
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2012 2012