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: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		0.030 1.000 3 2014 2016
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2006 2015
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2006 2015
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: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2009 2012
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2009 2012
dbSNP: rs104893624
rs104893624
CXCR4 ; LOC112268426
0.851 0.200 2 136114928 stop gained G/A snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2009 2009
dbSNP: rs104893624
rs104893624
CXCR4 ; LOC112268426
0.851 0.200 2 136114928 stop gained G/A snv
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2009 2009
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: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		0.010 1.000 1 2016 2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.010 1.000 1 2014 2014
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 1.000 1 2014 2014
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C1136085
Disease: Monoclonal Gammapathies
Monoclonal Gammapathies 		0.010 1.000 1 2016 2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0563312
Disease: IgM monoclonal gammopathy of uncertain significance
IgM monoclonal gammopathy of uncertain significance 		0.010 1.000 1 2016 2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0334633
Disease: Malignant lymphoma - lymphoplasmacytic
Malignant lymphoma - lymphoplasmacytic 		0.010 1.000 1 2014 2014
dbSNP: rs1194919682
rs1194919682
CXCR4 ; LOC112268426
0.925 0.040 2 136115158 missense variant A/G snv
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 1.000 1 2011 2011
dbSNP: rs1194919682
rs1194919682
CXCR4 ; LOC112268426
0.925 0.040 2 136115158 missense variant A/G snv
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1272938495
rs1272938495
CXCR4 ; LOC112268426
1.000 2 136115225 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 1.000 1 2011 2011
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