Source: ALL

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: rs104893625
rs104893625
CXCR4 ; LOC112268426
1.000 0.160 2 136114901 stop gained C/A snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.700 0
dbSNP: rs730880320
rs730880320
CXCR4 ; LOC112268426
1.000 0.160 2 136114911 frameshift variant GA/- delins
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.700 0
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: 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: 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: 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: 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: C0334633
Disease: Malignant lymphoma - lymphoplasmacytic
Malignant lymphoma - lymphoplasmacytic 		0.010 1.000 1 2014 2014
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: 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
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 9 2003 2016
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: 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: C1834176
Disease: MYELOKATHEXIS, ISOLATED
MYELOKATHEXIS, ISOLATED 		0.700 0
dbSNP: rs1240625960
rs1240625960
CXCR4 ; LOC112268426
1.000 0.160 2 136114934 stop gained C/A;T snv 4.0E-06
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.700 0
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: 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: rs766914563
rs766914563
CXCR4 ; LOC112268426
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2001 2001
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2006 2006
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: rs766914563
rs766914563
CXCR4 ; LOC112268426
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2012 2012