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: 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: rs2471859
rs2471859
CXCR4
1.000 0.040 2 136116434 intron variant A/G snv 0.31
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2018 2018
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2012 2012
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2007 2007
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2009 2009
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2009 2009
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 1.000 1 2012 2012
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 2015 2015
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2006 2006
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2009 2009
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2001 2001
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
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: rs553062694
rs553062694
CXCR4
1.000 0.080 2 136116611 intron variant C/T snv 6.7E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2011 2011
dbSNP: rs756207760
rs756207760
CXCR4
2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.010 1.000 1 1999 1999
dbSNP: rs756207760
rs756207760
CXCR4
2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.010 1.000 1 1999 1999
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2009 2009
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2002 2002