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: 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: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2003 2005
dbSNP: rs1047972
rs1047972 		0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2007 2009
dbSNP: rs2273535
rs2273535 		0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2007 2009
dbSNP: rs8173
rs8173 		0.763 0.240 20 56369735 3 prime UTR variant C/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs8173
rs8173 		0.763 0.240 20 56369735 3 prime UTR variant C/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10485805
rs10485805 		0.925 0.080 20 56370727 intron variant A/G snv 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10485805
rs10485805 		0.925 0.080 20 56370727 intron variant A/G snv 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs16979877
rs16979877 		0.925 0.080 20 56392982 intron variant A/G snv 5.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs16979877
rs16979877 		0.925 0.080 20 56392982 intron variant A/G snv 5.5E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2298016
rs2298016 		0.925 0.080 20 56384240 intron variant G/C;T snv 0.29; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2298016
rs2298016 		0.925 0.080 20 56384240 intron variant G/C;T snv 0.29; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6024836
rs6024836 		0.851 0.160 20 56369012 downstream gene variant G/A snv 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6024836
rs6024836 		0.851 0.160 20 56369012 downstream gene variant G/A snv 0.42
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6064389
rs6064389 		0.925 0.080 20 56393679 intron variant G/T snv 0.43
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6064389
rs6064389 		0.925 0.080 20 56393679 intron variant G/T snv 0.43
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011