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: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2005 2005
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 1.000 1 2005 2005
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.010 1.000 1 2006 2006
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.010 1.000 1 2007 2007
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 1.000 1 2007 2007
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.020 1.000 2 2007 2008
dbSNP: rs1481012
rs1481012
0.882 0.200 4 88117930 intron variant A/G snv 8.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2008 2008
dbSNP: rs2231137
rs2231137
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
androgen independent prostate cancer
0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 1.000 1 2008 2008
dbSNP: rs2622621
rs2622621
0.851 0.240 4 88109768 intron variant C/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2008 2008
dbSNP: rs2231137
rs2231137
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 1.000 1 2009 2009
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2009 2009
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2009 2009
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2009 2009
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 1.000 1 2009 2009
dbSNP: rs199976573
rs199976573
0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 1.000 1 2010 2010
dbSNP: rs1185675198
rs1185675198
0.925 0.080 4 88121789 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2011 2011
dbSNP: rs1185675198
rs1185675198
0.925 0.080 4 88121789 missense variant C/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2011 2011
dbSNP: rs199976573
rs199976573
0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 1.000 1 2011 2011
dbSNP: rs199976573
rs199976573
0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2011 2011
dbSNP: rs199976573
rs199976573
0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 1.000 1 2012 2012
dbSNP: rs6857600
rs6857600
0.925 0.120 4 88144923 intron variant C/T snv 0.28
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 1.000 1 2012 2012