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: rs104893624
rs104893624
CXCR4 ; LOC112268426
0.851 0.200 2 136114928 stop gained G/A snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.750 1.000 5 2003 2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.720 1.000 2 2014 2015
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		0.030 1.000 3 2014 2016
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: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		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: C0679362
Disease: Tuberculosis, extrapulmonary
Tuberculosis, extrapulmonary 		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: C0041296
Disease: Tuberculosis
Tuberculosis 		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: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
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: 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: 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: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 < 0.001 1 2008 2008
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: rs766914563
rs766914563
CXCR4 ; LOC112268426
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		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: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2015 2015
dbSNP: rs781172058
rs781172058
CXCR4
0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2009 2009
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: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2016 2016
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 0.500 2 2012 2015
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: rs766914563
rs766914563
CXCR4 ; LOC112268426
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs781172058
rs781172058
CXCR4
0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2007 2007