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: rs117856857
rs117856857
1.000 0.080 8 127736248 missense variant C/G snv 1.7E-02
CUI: C0016978
Disease: gallbladder neoplasm
gallbladder neoplasm
0.010 1.000 1 2015 2015
dbSNP: rs2070583
rs2070583
MYC
1.000 0.040 8 127741008 3 prime UTR variant A/G snv 4.2E-02 2.9E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 < 0.001 1 2014 2014
dbSNP: rs2071346
rs2071346
0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02
CUI: C0002871
Disease: Anemia
Anemia
0.010 1.000 1 2019 2019
dbSNP: rs2071346
rs2071346
0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.010 1.000 1 2019 2019
dbSNP: rs2071346
rs2071346
0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs28933407
rs28933407
1.000 0.160 8 127738431 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2015 2015
dbSNP: rs3824120
rs3824120
8 127735707 missense variant G/A;C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2016 2016
dbSNP: rs3824120
rs3824120
8 127735707 missense variant G/A;C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2016 2016
dbSNP: rs4645948
rs4645948
0.882 0.160 8 127736252 synonymous variant C/T snv 2.8E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 1.000 1 2019 2019
dbSNP: rs4645948
rs4645948
0.882 0.160 8 127736252 synonymous variant C/T snv 2.8E-02
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs4645948
rs4645948
0.882 0.160 8 127736252 synonymous variant C/T snv 2.8E-02
CUI: C0002871
Disease: Anemia
Anemia
0.010 1.000 1 2019 2019
dbSNP: rs4645959
rs4645959
0.882 0.080 8 127738294 missense variant A/C;G snv 1.6E-05; 2.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2005 2005
dbSNP: rs4645959
rs4645959
0.882 0.080 8 127738294 missense variant A/C;G snv 1.6E-05; 2.3E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.010 1.000 1 2005 2005
dbSNP: rs4645959
rs4645959
0.882 0.080 8 127738294 missense variant A/C;G snv 1.6E-05; 2.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2005 2005
dbSNP: rs747141352
rs747141352
0.882 0.160 8 127736607 missense variant G/A;C snv 8.0E-06
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs747141352
rs747141352
0.882 0.160 8 127736607 missense variant G/A;C snv 8.0E-06
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs747141352
rs747141352
0.882 0.160 8 127736607 missense variant G/A;C snv 8.0E-06
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
0.010 1.000 1 2014 2014