CA9, carbonic anhydrase 9, 768

N. diseases: 226; N. variants: 4
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: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0677898
Disease: invasive cancer
invasive cancer 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017
dbSNP: rs1048638
rs1048638 		0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs12553173
rs12553173 		1.000 0.120 9 35674104 synonymous variant T/C snv 0.14 0.20
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 1.000 1 2009 2009
dbSNP: rs2071676
rs2071676 		0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2071676
rs2071676 		0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2071676
rs2071676 		0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30
CUI: C0677898
Disease: invasive cancer
invasive cancer 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2071676
rs2071676 		0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs3829078
rs3829078 		0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs3829078
rs3829078 		0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs3829078
rs3829078 		0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2019 2019
dbSNP: rs3829078
rs3829078 		0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3829078
rs3829078 		0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3829078
rs3829078 		0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019