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: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2009 2015
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2009 2015
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 1.000 2 2009 2018
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 < 0.001 1 2016 2016
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 1.000 1 2009 2009
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2018 2018
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2014 2014
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs375868851
rs375868851
CXCR4
1.000 0.040 2 136115889 synonymous variant G/A;C snv 5.2E-05; 8.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2016 2016
dbSNP: rs769772228
rs769772228
CXCR4
0.925 0.080 2 136115346 missense variant C/G snv 2.0E-05 4.9E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs769772228
rs769772228
CXCR4
0.925 0.080 2 136115346 missense variant C/G snv 2.0E-05 4.9E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs147198552
rs147198552
CXCR4
0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2009 2009
dbSNP: rs147198552
rs147198552
CXCR4
0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs147198552
rs147198552
CXCR4
0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C4049272
Disease: Tumour budding
Tumour budding 		0.010 1.000 1 2015 2015
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2015 2015
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015