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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C0563312
Disease: IgM monoclonal gammopathy of uncertain significance
IgM monoclonal gammopathy of uncertain significance 		0.010 1.000 1 2016 2016