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: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.070 0.714 7 2009 2017
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.050 1.000 5 2012 2019
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.050 1.000 5 2012 2019
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.050 0.400 5 2012 2016
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.050 1.000 5 2012 2019
dbSNP: rs5743836
rs5743836
0.658 0.440 3 52226766 intron variant A/G snv 0.20
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.050 0.600 5 2007 2017
dbSNP: rs352139
rs352139
0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.040 1.000 4 2012 2015
dbSNP: rs352139
rs352139
0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.040 0.500 4 2012 2017
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.040 0.750 4 2011 2018
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.040 0.750 4 2011 2018
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.040 0.750 4 2011 2018
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 1.000 3 2013 2019
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.030 1.000 3 2014 2018
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 1.000 3 2013 2019
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
0.030 1.000 3 2013 2017
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 1.000 2 2011 2014
dbSNP: rs187084
rs187084
0.641 0.480 3 52227015 intron variant A/G snv 0.38
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 1.000 2 2012 2019
dbSNP: rs352139
rs352139
0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.020 1.000 2 2014 2014
dbSNP: rs352139
rs352139
0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.020 1.000 2 2014 2014
dbSNP: rs352139
rs352139
0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.020 1.000 2 2015 2019
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections
0.020 0.500 2 2016 2017
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2013 2019
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0085437
Disease: Meningitis, Bacterial
Meningitis, Bacterial
0.020 1.000 2 2016 2017
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.020 1.000 2 2014 2017
dbSNP: rs352140
rs352140
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.020 1.000 2 2009 2019